{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384551044", "communityStandardTitle": [ "NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1781901[alleleid]", "alleleId": 1781901, "preferredName": "NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1724374", "RCV": [ "RCV002309642" ], "variationId": 1724374 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48535110G>A?assembly=hg19", "id": "chr12:g.48535110G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48141327G>A?assembly=hg38", "id": "chr12:g.48141327G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2498556494", "rs": 2498556494 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 48141327, "referenceAllele": "G", "start": 48141326 } ], "hgvs": [ "NC_000012.12:g.48141327G>A", "CM000674.2:g.48141327G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 48535110, "referenceAllele": "G", "start": 48535109 } ], "hgvs": [ "NC_000012.11:g.48535110G>A", "CM000674.1:g.48535110G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 46821377, "referenceAllele": "G", "start": 46821376 } ], "hgvs": [ "NC_000012.10:g.46821377G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 40455, "referenceAllele": "G", "start": 40454 } ], "hgvs": [ "NG_016199.1:g.40455G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "A", "end": 41075, "referenceAllele": "G", "start": 41074 } ], "hgvs": [ "NG_016199.2:g.41075G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1704, "referenceAllele": "G", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.1580G>A" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Trp527Ter", "hgvsWellDefined": "ENSP00000447997.3:p.Trp527_Val854delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.1571G>A" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Trp524Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "A", "end": 1409, "referenceAllele": "G", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.1358G>A" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Trp453Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.1358G>A" }, "RefSeq": { "hgvs": "NM_000289.6:c.1358G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Trp453Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Trp453Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1500, "referenceAllele": "G", "start": 1499 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.1265G>A" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Trp422Ter", "hgvsWellDefined": "ENSP00000446829.3:p.Trp422_Val694delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "A", "end": 1647, "referenceAllele": "G", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.1358G>A" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Trp453Ter", "hgvsWellDefined": "ENSP00000450369.2:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "A", "end": 1556, "referenceAllele": "G", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.1358G>A" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Trp453Ter", "hgvsWellDefined": "ENSP00000446945.2:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "A", "end": 1502, "referenceAllele": "G", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.1358G>A" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Trp453Ter", "hgvsWellDefined": "ENSP00000448253.2:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "A", "end": 1811, "referenceAllele": "G", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.1667G>A" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Trp556Ter", "hgvsWellDefined": "ENSP00000496597.1:p.Trp556_Val883delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "A", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.1358G>A" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Trp453Ter", "hgvsWellDefined": "ENSP00000309438.7:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.1571G>A" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Trp524Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "A", "end": 1547, "referenceAllele": "G", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.1358G>A" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Trp453Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264911" }, { "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546465.1:c.203G>A" ], "proteinEffect": { "hgvs": "ENSP00000446519.1:p.Trp68Ter", "hgvsWellDefined": "ENSP00000446519.1:p.Trp68_Gly177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS365658" }, { "coordinates": [ { "allele": "A", "end": 1682, "referenceAllele": "G", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546964.5:n.1682G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS365992" }, { "coordinates": [ { "allele": "A", "end": 2198, "referenceAllele": "G", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547581.5:c.*1626G>A" ], "proteinEffect": { "hgvs": "ENSP00000447992.1:n.*1626G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS366367" }, { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547587.5:c.1358G>A" ], "proteinEffect": { "hgvs": "ENSP00000449426.1:p.Trp453Ter", "hgvsWellDefined": "ENSP00000449426.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366371" }, { "coordinates": [ { "allele": "A", "end": 1416, "referenceAllele": "G", "start": 1415 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551804.5:c.1265G>A" ], "proteinEffect": { "hgvs": "ENSP00000448177.1:p.Trp422Ter", "hgvsWellDefined": "ENSP00000448177.1:p.Trp422_Val749delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "G", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552752.5:c.507G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS369425" }, { "@id": "http://reg.genome.network/allele/PA2825141831", "coordinates": [ { "allele": "A", "end": 1543, "referenceAllele": "G", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Trp453Ter", "hgvsWellDefined": "NP_000280.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "@id": "http://reg.genome.network/allele/PA2826034243", "coordinates": [ { "allele": "A", "end": 1845, "referenceAllele": "G", "start": 1844 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.1571G>A" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Trp524Ter", "hgvsWellDefined": "NP_001160158.1:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "@id": "http://reg.genome.network/allele/PA2826034696", "coordinates": [ { "allele": "A", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Trp453Ter", "hgvsWellDefined": "NP_001160159.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "@id": "http://reg.genome.network/allele/PA2826035153", "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Trp453Ter", "hgvsWellDefined": "NP_001160160.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "A", "end": 1742, "referenceAllele": "G", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.1667G>A" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Trp556Ter", "hgvsWellDefined": "XP_005269031.1:p.Trp556_Val883delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "A", "end": 1881, "referenceAllele": "G", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.1667G>A" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Trp556Ter", "hgvsWellDefined": "XP_005269032.1:p.Trp556_Val883delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "A", "end": 1786, "referenceAllele": "G", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.1667G>A" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Trp556Ter", "hgvsWellDefined": "XP_005269033.1:p.Trp556_Val883delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.1571G>A" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Trp524Ter", "hgvsWellDefined": "XP_005269034.1:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "A", "end": 1641, "referenceAllele": "G", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.1571G>A" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Trp524Ter", "hgvsWellDefined": "XP_005269035.1:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.1571G>A" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Trp524Ter", "hgvsWellDefined": "XP_005269036.1:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "A", "end": 1583, "referenceAllele": "G", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.1574G>A" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Trp525Ter", "hgvsWellDefined": "XP_011536789.1:p.Trp525_Val852delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "A", "end": 1384, "referenceAllele": "G", "start": 1383 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.1358G>A" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Trp453Ter", "hgvsWellDefined": "XP_011536790.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "@id": "http://reg.genome.network/allele/PA2825141831", "coordinates": [ { "allele": "A", "end": 1409, "referenceAllele": "G", "start": 1408 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Trp453Ter", "hgvsWellDefined": "NP_000280.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.1358G>A" }, "RefSeq": { "hgvs": "NM_000289.6:c.1358G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Trp453Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Trp453Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826034243", "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.1571G>A" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Trp524Ter", "hgvsWellDefined": "NP_001160158.1:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "@id": "http://reg.genome.network/allele/PA2827929356", "coordinates": [ { "allele": "A", "end": 1813, "referenceAllele": "G", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.1667G>A" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Trp556Ter", "hgvsWellDefined": "NP_001341664.1:p.Trp556_Val883delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "@id": "http://reg.genome.network/allele/PA2580229021", "coordinates": [ { "allele": "A", "end": 1872, "referenceAllele": "G", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.1667G>A" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Trp556Ter", "hgvsWellDefined": "NP_001341665.1:p.Trp556_Val883delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "@id": "http://reg.genome.network/allele/PA2827930145", "coordinates": [ { "allele": "A", "end": 1776, "referenceAllele": "G", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.1571G>A" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Trp524Ter", "hgvsWellDefined": "NP_001341666.1:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "@id": "http://reg.genome.network/allele/PA2827930608", "coordinates": [ { "allele": "A", "end": 1646, "referenceAllele": "G", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.1571G>A" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Trp524Ter", "hgvsWellDefined": "NP_001341667.1:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "@id": "http://reg.genome.network/allele/PA2827931060", "coordinates": [ { "allele": "A", "end": 1717, "referenceAllele": "G", "start": 1716 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.1571G>A" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Trp524Ter", "hgvsWellDefined": "NP_001341668.1:p.Trp524_Val851delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "@id": "http://reg.genome.network/allele/PA2827931510", "coordinates": [ { "allele": "A", "end": 1599, "referenceAllele": "G", "start": 1598 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.1502G>A" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Trp501Ter", "hgvsWellDefined": "NP_001341669.1:p.Trp501_Val828delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "@id": "http://reg.genome.network/allele/PA2827931960", "coordinates": [ { "allele": "A", "end": 1629, "referenceAllele": "G", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.1382G>A" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Trp461Ter", "hgvsWellDefined": "NP_001341670.1:p.Trp461_Val788delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "@id": "http://reg.genome.network/allele/PA2827932417", "coordinates": [ { "allele": "A", "end": 1533, "referenceAllele": "G", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Trp453Ter", "hgvsWellDefined": "NP_001341671.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "@id": "http://reg.genome.network/allele/PA2827932874", "coordinates": [ { "allele": "A", "end": 1556, "referenceAllele": "G", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Trp453Ter", "hgvsWellDefined": "NP_001341672.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "@id": "http://reg.genome.network/allele/PA2827933331", "coordinates": [ { "allele": "A", "end": 1591, "referenceAllele": "G", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Trp453Ter", "hgvsWellDefined": "NP_001341673.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "@id": "http://reg.genome.network/allele/PA2827933766", "coordinates": [ { "allele": "A", "end": 1781, "referenceAllele": "G", "start": 1780 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.1271G>A" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Trp424Ter", "hgvsWellDefined": "NP_001341674.1:p.Trp424_Val751delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "@id": "http://reg.genome.network/allele/PA2827934190", "coordinates": [ { "allele": "A", "end": 1417, "referenceAllele": "G", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.1232G>A" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Trp411Ter", "hgvsWellDefined": "NP_001341675.1:p.Trp411_Val738delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "@id": "http://reg.genome.network/allele/PA2827934613", "coordinates": [ { "allele": "A", "end": 1459, "referenceAllele": "G", "start": 1458 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.1208G>A" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Trp403Ter", "hgvsWellDefined": "NP_001341676.1:p.Trp403_Val730delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "@id": "http://reg.genome.network/allele/PA2827935031", "coordinates": [ { "allele": "A", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.1208G>A" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Trp403Ter", "hgvsWellDefined": "NP_001341677.1:p.Trp403_Val730delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "@id": "http://reg.genome.network/allele/PA2828100631", "coordinates": [ { "allele": "A", "end": 1450, "referenceAllele": "G", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.1265G>A" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Trp422Ter", "hgvsWellDefined": "NP_001350548.1:p.Trp422_Val749delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.1795G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "A", "end": 2431, "referenceAllele": "G", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.2431G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "A", "end": 1721, "referenceAllele": "G", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.1721G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "A", "end": 1950, "referenceAllele": "G", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.1950G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "A", "end": 1698, "referenceAllele": "G", "start": 1697 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.1698G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "A", "end": 1624, "referenceAllele": "G", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.1624G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "A", "end": 1924, "referenceAllele": "G", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.1667G>A" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Trp556Ter", "hgvsWellDefined": "XP_005269033.1:p.Trp556_Val883delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "A", "end": 1635, "referenceAllele": "G", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.1478G>A" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Trp493Ter", "hgvsWellDefined": "XP_016874958.1:p.Trp493_Val820delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "A", "end": 1704, "referenceAllele": "G", "start": 1703 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.1580G>A" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Trp527Ter", "hgvsWellDefined": "XP_024304788.1:p.Trp527_Val854delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "A", "end": 1593, "referenceAllele": "G", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.1457G>A" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Trp486Ter", "hgvsWellDefined": "XP_024304789.1:p.Trp486_Val813delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "A", "end": 1509, "referenceAllele": "G", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.1358G>A" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Trp453Ter", "hgvsWellDefined": "XP_024304790.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "@id": "http://reg.genome.network/allele/PA2826034696", "coordinates": [ { "allele": "A", "end": 1397, "referenceAllele": "G", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Trp453Ter", "hgvsWellDefined": "NP_001160159.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "@id": "http://reg.genome.network/allele/PA2826035153", "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Trp453Ter", "hgvsWellDefined": "NP_001160160.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "@id": "http://reg.genome.network/allele/PA2827931960", "coordinates": [ { "allele": "A", "end": 1529, "referenceAllele": "G", "start": 1528 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.1382G>A" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Trp461Ter", "hgvsWellDefined": "NP_001341670.1:p.Trp461_Val788delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "@id": "http://reg.genome.network/allele/PA2827932417", "coordinates": [ { "allele": "A", "end": 1433, "referenceAllele": "G", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Trp453Ter", "hgvsWellDefined": "NP_001341671.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "@id": "http://reg.genome.network/allele/PA2827932874", "coordinates": [ { "allele": "A", "end": 1696, "referenceAllele": "G", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Trp453Ter", "hgvsWellDefined": "NP_001341672.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "@id": "http://reg.genome.network/allele/PA2827933331", "coordinates": [ { "allele": "A", "end": 1457, "referenceAllele": "G", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.1358G>A" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Trp453Ter", "hgvsWellDefined": "NP_001341673.1:p.Trp453_Val780delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "@id": "http://reg.genome.network/allele/PA2827933766", "coordinates": [ { "allele": "A", "end": 1647, "referenceAllele": "G", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.1271G>A" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Trp424Ter", "hgvsWellDefined": "NP_001341674.1:p.Trp424_Val751delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "@id": "http://reg.genome.network/allele/PA2827934190", "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.1232G>A" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Trp411Ter", "hgvsWellDefined": "NP_001341675.1:p.Trp411_Val738delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "@id": "http://reg.genome.network/allele/PA2827934613", "coordinates": [ { "allele": "A", "end": 1359, "referenceAllele": "G", "start": 1358 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.1208G>A" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Trp403Ter", "hgvsWellDefined": "NP_001341676.1:p.Trp403_Val730delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "@id": "http://reg.genome.network/allele/PA2827935031", "coordinates": [ { "allele": "A", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.1208G>A" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Trp403Ter", "hgvsWellDefined": "NP_001341677.1:p.Trp403_Val730delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "@id": "http://reg.genome.network/allele/PA2828100631", "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "G", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.1265G>A" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Trp422Ter", "hgvsWellDefined": "NP_001350548.1:p.Trp422_Val749delinsSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "A", "end": 1661, "referenceAllele": "G", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.1661G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "A", "end": 1587, "referenceAllele": "G", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.1587G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "A", "end": 1816, "referenceAllele": "G", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.1816G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "A", "end": 1564, "referenceAllele": "G", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.1564G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "A", "end": 1490, "referenceAllele": "G", "start": 1489 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.1490G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }