{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384543807", "communityStandardTitle": [ "NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2978861[alleleid]", "alleleId": 2978861, "preferredName": "NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2824187", "RCV": [ "RCV003601741" ], "variationId": 2824187 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48527259C>T?assembly=hg19", "id": "chr12:g.48527259C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48133476C>T?assembly=hg38", "id": "chr12:g.48133476C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2498315567", "rs": 2498315567 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48133476, "referenceAllele": "C", "start": 48133475 } ], "hgvs": [ "NC_000012.12:g.48133476C>T", "CM000674.2:g.48133476C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48527259, "referenceAllele": "C", "start": 48527258 } ], "hgvs": [ "NC_000012.11:g.48527259C>T", "CM000674.1:g.48527259C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 46813526, "referenceAllele": "C", "start": 46813525 } ], "hgvs": [ "NC_000012.10:g.46813526C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 32604, "referenceAllele": "C", "start": 32603 } ], "hgvs": [ "NG_016199.1:g.32604C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "T", "end": 33224, "referenceAllele": "C", "start": 33223 } ], "hgvs": [ "NG_016199.2:g.33224C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.811C>T" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Gln271Ter", "hgvsWellDefined": "ENSP00000447997.3:p.Gln271_Val854delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "T", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.802C>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Gln268Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Gln197Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.589C>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.589C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Gln197Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Gln197Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Gln197Ter", "hgvsWellDefined": "ENSP00000446829.3:p.Gln197_Val694delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "T", "end": 878, "referenceAllele": "C", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Gln197Ter", "hgvsWellDefined": "ENSP00000450369.2:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Gln197Ter", "hgvsWellDefined": "ENSP00000446945.2:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Gln197Ter", "hgvsWellDefined": "ENSP00000448253.2:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "T", "end": 1042, "referenceAllele": "C", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.898C>T" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Gln300Ter", "hgvsWellDefined": "ENSP00000496597.1:p.Gln300_Val883delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "T", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Gln197Ter", "hgvsWellDefined": "ENSP00000309438.7:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "T", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.802C>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Gln268Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "T", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Gln197Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264911" }, { "coordinates": [ { "allele": "T", "end": 140, "endIntronDirection": "-", "endIntronOffset": 7294, "referenceAllele": "C", "start": 140, "startIntronDirection": "-", "startIntronOffset": 7295 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546465.1:c.86-7295C>T" ], "proteinEffect": { "hgvs": "ENSP00000446519.1:n.86-7295C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS365658" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546964.5:n.661C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS365992" }, { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547581.5:c.*605C>T" ], "proteinEffect": { "hgvs": "ENSP00000447992.1:n.*605C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS366367" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547587.5:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000449426.1:p.Gln197Ter", "hgvsWellDefined": "ENSP00000449426.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366371" }, { "coordinates": [ { "allele": "T", "end": 451, "endIntronDirection": "+", "endIntronOffset": 419, "referenceAllele": "C", "start": 451, "startIntronDirection": "+", "startIntronOffset": 418 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000548345.5:c.427+419C>T" ], "proteinEffect": { "hgvs": "ENSP00000449269.1:n.427+419C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS366803" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551804.5:c.589C>T" ], "proteinEffect": { "hgvs": "ENSP00000448177.1:p.Gln197Ter", "hgvsWellDefined": "ENSP00000448177.1:p.Gln197_Val749delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "T", "end": 149, "endIntronDirection": "-", "endIntronOffset": 762, "referenceAllele": "C", "start": 149, "startIntronDirection": "-", "startIntronOffset": 763 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552989.5:c.86-763C>T" ], "proteinEffect": { "hgvs": "ENSP00000447774.1:n.86-763C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS369569" }, { "@id": "http://reg.genome.network/allele/PA2825141685", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.589C>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Gln197Ter", "hgvsWellDefined": "NP_000280.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "@id": "http://reg.genome.network/allele/PA2826034091", "coordinates": [ { "allele": "T", "end": 1076, "referenceAllele": "C", "start": 1075 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.802C>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Gln268Ter", "hgvsWellDefined": "NP_001160158.1:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "@id": "http://reg.genome.network/allele/PA2826034543", "coordinates": [ { "allele": "T", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Gln197Ter", "hgvsWellDefined": "NP_001160159.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "@id": "http://reg.genome.network/allele/PA2826035000", "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Gln197Ter", "hgvsWellDefined": "NP_001160160.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "T", "end": 973, "referenceAllele": "C", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Gln300Ter", "hgvsWellDefined": "XP_005269031.1:p.Gln300_Val883delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Gln300Ter", "hgvsWellDefined": "XP_005269032.1:p.Gln300_Val883delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "T", "end": 1017, "referenceAllele": "C", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.898C>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Gln300Ter", "hgvsWellDefined": "XP_005269033.1:p.Gln300_Val883delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.802C>T" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Gln268Ter", "hgvsWellDefined": "XP_005269034.1:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.802C>T" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Gln268Ter", "hgvsWellDefined": "XP_005269035.1:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.802C>T" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Gln268Ter", "hgvsWellDefined": "XP_005269036.1:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Gln300Ter", "hgvsWellDefined": "XP_011536789.1:p.Gln300_Val852delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.589C>T" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Gln197Ter", "hgvsWellDefined": "XP_011536790.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "@id": "http://reg.genome.network/allele/PA2825141685", "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.589C>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Gln197Ter", "hgvsWellDefined": "NP_000280.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.589C>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.589C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Gln197Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Gln197Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826034091", "coordinates": [ { "allele": "T", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.802C>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Gln268Ter", "hgvsWellDefined": "NP_001160158.1:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "@id": "http://reg.genome.network/allele/PA2827929203", "coordinates": [ { "allele": "T", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.898C>T" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Gln300Ter", "hgvsWellDefined": "NP_001341664.1:p.Gln300_Val883delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "@id": "http://reg.genome.network/allele/PA2741867975", "coordinates": [ { "allele": "T", "end": 1103, "referenceAllele": "C", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.898C>T" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Gln300Ter", "hgvsWellDefined": "NP_001341665.1:p.Gln300_Val883delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "@id": "http://reg.genome.network/allele/PA2827929992", "coordinates": [ { "allele": "T", "end": 1007, "referenceAllele": "C", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.802C>T" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Gln268Ter", "hgvsWellDefined": "NP_001341666.1:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "@id": "http://reg.genome.network/allele/PA2827930455", "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.802C>T" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Gln268Ter", "hgvsWellDefined": "NP_001341667.1:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "@id": "http://reg.genome.network/allele/PA2827930907", "coordinates": [ { "allele": "T", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.802C>T" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Gln268Ter", "hgvsWellDefined": "NP_001341668.1:p.Gln268_Val851delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "@id": "http://reg.genome.network/allele/PA2827931357", "coordinates": [ { "allele": "T", "end": 830, "referenceAllele": "C", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.733C>T" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Gln245Ter", "hgvsWellDefined": "NP_001341669.1:p.Gln245_Val828delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "@id": "http://reg.genome.network/allele/PA2827931807", "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.613C>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Gln205Ter", "hgvsWellDefined": "NP_001341670.1:p.Gln205_Val788delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "@id": "http://reg.genome.network/allele/PA2827932264", "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Gln197Ter", "hgvsWellDefined": "NP_001341671.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "@id": "http://reg.genome.network/allele/PA2827932721", "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Gln197Ter", "hgvsWellDefined": "NP_001341672.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "@id": "http://reg.genome.network/allele/PA2827933178", "coordinates": [ { "allele": "T", "end": 822, "referenceAllele": "C", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Gln197Ter", "hgvsWellDefined": "NP_001341673.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "@id": "http://reg.genome.network/allele/PA2827933613", "coordinates": [ { "allele": "T", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341674.1:p.Gln168_Val751delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "@id": "http://reg.genome.network/allele/PA2827934070", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Gln197Ter", "hgvsWellDefined": "NP_001341675.1:p.Gln197_Val738delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "@id": "http://reg.genome.network/allele/PA2827934460", "coordinates": [ { "allele": "T", "end": 690, "referenceAllele": "C", "start": 689 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.439C>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Gln147Ter", "hgvsWellDefined": "NP_001341676.1:p.Gln147_Val730delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "@id": "http://reg.genome.network/allele/PA2827934878", "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.439C>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Gln147Ter", "hgvsWellDefined": "NP_001341677.1:p.Gln147_Val730delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "@id": "http://reg.genome.network/allele/PA2828100502", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Gln197Ter", "hgvsWellDefined": "NP_001350548.1:p.Gln197_Val749delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.774C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "T", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.1410C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.774C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.774C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.898C>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Gln300Ter", "hgvsWellDefined": "XP_005269033.1:p.Gln300_Val883delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.802C>T" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Gln268Ter", "hgvsWellDefined": "XP_016874958.1:p.Gln268_Val820delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "T", "end": 935, "referenceAllele": "C", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.811C>T" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Gln271Ter", "hgvsWellDefined": "XP_024304788.1:p.Gln271_Val854delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.688C>T" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Gln230Ter", "hgvsWellDefined": "XP_024304789.1:p.Gln230_Val813delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.589C>T" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Gln197Ter", "hgvsWellDefined": "XP_024304790.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "@id": "http://reg.genome.network/allele/PA2826034543", "coordinates": [ { "allele": "T", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Gln197Ter", "hgvsWellDefined": "NP_001160159.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "@id": "http://reg.genome.network/allele/PA2826035000", "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Gln197Ter", "hgvsWellDefined": "NP_001160160.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "@id": "http://reg.genome.network/allele/PA2827931807", "coordinates": [ { "allele": "T", "end": 760, "referenceAllele": "C", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.613C>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Gln205Ter", "hgvsWellDefined": "NP_001341670.1:p.Gln205_Val788delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "@id": "http://reg.genome.network/allele/PA2827932264", "coordinates": [ { "allele": "T", "end": 664, "referenceAllele": "C", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Gln197Ter", "hgvsWellDefined": "NP_001341671.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "@id": "http://reg.genome.network/allele/PA2827932721", "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Gln197Ter", "hgvsWellDefined": "NP_001341672.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "@id": "http://reg.genome.network/allele/PA2827933178", "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "C", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Gln197Ter", "hgvsWellDefined": "NP_001341673.1:p.Gln197_Val780delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "@id": "http://reg.genome.network/allele/PA2827933613", "coordinates": [ { "allele": "T", "end": 878, "referenceAllele": "C", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.502C>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Gln168Ter", "hgvsWellDefined": "NP_001341674.1:p.Gln168_Val751delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "@id": "http://reg.genome.network/allele/PA2827934070", "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Gln197Ter", "hgvsWellDefined": "NP_001341675.1:p.Gln197_Val738delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "@id": "http://reg.genome.network/allele/PA2827934460", "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.439C>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Gln147Ter", "hgvsWellDefined": "NP_001341676.1:p.Gln147_Val730delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "@id": "http://reg.genome.network/allele/PA2827934878", "coordinates": [ { "allele": "T", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.439C>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Gln147Ter", "hgvsWellDefined": "NP_001341677.1:p.Gln147_Val730delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "@id": "http://reg.genome.network/allele/PA2828100502", "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.589C>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Gln197Ter", "hgvsWellDefined": "NP_001350548.1:p.Gln197_Val749delinsSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.640C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "T", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.566C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.640C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "C", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.640C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "T", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.566C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }