{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8040689", "communityStandardTitle": [ "NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=620544[alleleid]", "alleleId": 620544, "preferredName": "NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/632256", "RCV": [ "RCV000779190" ], "variationId": 632256 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-47627432-G-T", "id": "16-47627432-G-T", "variant": "16:47627432 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47627432G>T?assembly=hg19", "id": "chr16:g.47627432G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.47593521G>T?assembly=hg38", "id": "chr16:g.47593521G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/371296953", "rs": 371296953 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47627432-G-T?dataset=gnomad_r2_1", "id": "16-47627432-G-T", "variant": "16:47627432 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47593521-G-T?dataset=gnomad_r3", "id": "16-47593521-G-T", "variant": "16:47593521 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-47593521-G-T?dataset=gnomad_r4", "id": "16-47593521-G-T", "variant": "16:47593521 G / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47593521, "referenceAllele": "G", "start": 47593520 } ], "hgvs": [ "NC_000016.10:g.47593521G>T", "CM000678.2:g.47593521G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 47627432, "referenceAllele": "G", "start": 47627431 } ], "hgvs": [ "NC_000016.9:g.47627432G>T", "CM000678.1:g.47627432G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 46184933, "referenceAllele": "G", "start": 46184932 } ], "hgvs": [ "NC_000016.8:g.46184933G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 137223, "referenceAllele": "G", "start": 137222 } ], "hgvs": [ "NG_016598.1:g.137223G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003224" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000696809.1:c.1069G>T" ], "proteinEffect": { "hgvs": "ENSP00000512887.1:p.Glu357Ter", "hgvsWellDefined": "ENSP00000512887.1:p.Glu357_Lys495delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnLysTyrPheLeuThrThrSerPheValGlnIleIleAspThrArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908253" }, { "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "G", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000699276.1:c.1069G>T" ], "proteinEffect": { "hgvs": "ENSP00000514257.1:p.Glu357Ter", "hgvsWellDefined": "ENSP00000514257.1:p.Glu357_Lys813delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValGlyCysThrProCysSerLysSerPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910216" }, { "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "G", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.10:c.1090G>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Glu364Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Glu364_Ser1093delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746571", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1090G>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.1090G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Glu364Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Glu364Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1115, "referenceAllele": "G", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000299167.12:c.1090G>T" ], "proteinEffect": { "hgvs": "ENSP00000299167.8:p.Glu364Ter", "hgvsWellDefined": "ENSP00000299167.8:p.Glu364_Ser1093delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254676" }, { "coordinates": [ { "allele": "T", "end": 1114, "referenceAllele": "G", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000323584.9:c.1090G>T" ], "proteinEffect": { "hgvs": "ENSP00000313504.5:p.Glu364Ter", "hgvsWellDefined": "ENSP00000313504.5:p.Glu364_Ser1093delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258228" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "G", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "ENST00000566044.5:c.1069G>T" ], "proteinEffect": { "hgvs": "ENSP00000456729.1:p.Glu357Ter", "hgvsWellDefined": "ENSP00000456729.1:p.Glu357_Ser1086delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS379145" }, { "@id": "http://reg.genome.network/allele/PA913195506", "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "G", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.2:c.1090G>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Glu364Ter", "hgvsWellDefined": "NP_000284.1:p.Glu364_Ser1093delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006354" }, { "@id": "http://reg.genome.network/allele/PA2825356892", "coordinates": [ { "allele": "T", "end": 1254, "referenceAllele": "G", "start": 1253 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.2:c.1069G>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Glu357Ter", "hgvsWellDefined": "NP_001027005.1:p.Glu357_Ser1086delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009041" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.3:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Glu364Ter", "hgvsWellDefined": "XP_005256040.1:p.Glu364_Ser1093delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061111" }, { "coordinates": [ { "allele": "T", "end": 1268, "referenceAllele": "G", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.3:c.1069G>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Glu357Ter", "hgvsWellDefined": "XP_005256041.1:p.Glu357_Ser1086delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061112" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_011523106.1:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_011521408.1:p.Glu364Ter", "hgvsWellDefined": "XP_011521408.1:p.Glu364_Trp779delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090246" }, { "@id": "http://reg.genome.network/allele/PA916044403", "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "G", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001363837.1:c.1090G>T" ], "proteinEffect": { "hgvs": "NP_001350766.1:p.Glu364Ter", "hgvsWellDefined": "NP_001350766.1:p.Glu364_Ser1093delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523593" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255983.4:c.1090G>T" ], "proteinEffect": { "hgvs": "XP_005256040.1:p.Glu364Ter", "hgvsWellDefined": "XP_005256040.1:p.Glu364_Ser1093delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534361" }, { "coordinates": [ { "allele": "T", "end": 1405, "referenceAllele": "G", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_005255984.4:c.1069G>T" ], "proteinEffect": { "hgvs": "XP_005256041.1:p.Glu357Ter", "hgvsWellDefined": "XP_005256041.1:p.Glu357_Ser1086delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534362" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023282.1:c.-24G>T" ], "proteinEffect": { "hgvs": "XP_016878771.1:n.-24G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574072" }, { "coordinates": [ { "allele": "T", "end": 1227, "referenceAllele": "G", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023283.1:c.-416G>T" ], "proteinEffect": { "hgvs": "XP_016878772.1:n.-416G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574073" }, { "coordinates": [ { "allele": "T", "end": 1108, "referenceAllele": "G", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XM_017023284.1:c.-416G>T" ], "proteinEffect": { "hgvs": "XP_016878773.1:n.-416G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS574074" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "G", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "XR_001751913.1:n.1105G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598701" }, { "@id": "http://reg.genome.network/allele/PA913195506", "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "G", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_000293.3:c.1090G>T" ], "proteinEffect": { "hgvs": "NP_000284.1:p.Glu364Ter", "hgvsWellDefined": "NP_000284.1:p.Glu364_Ser1093delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpLeuAlaValArgTyrGlyAlaAlaPheThrGlnLysPheSerSerSerIleAlaProHisIleThrThrPheLeuValHisGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662390", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000323584.10:c.1090G>T" }, "RefSeq": { "hgvs": "NM_000293.3:c.1090G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313504.5:p.Glu364Ter" }, "RefSeq": { "hgvs": "NP_000284.1:p.Glu364Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825356892", "coordinates": [ { "allele": "T", "end": 1222, "referenceAllele": "G", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN008927", "geneNCBI_id": 5257, "geneSymbol": "PHKB", "hgvs": [ "NM_001031835.3:c.1069G>T" ], "proteinEffect": { "hgvs": "NP_001027005.1:p.Glu357Ter", "hgvsWellDefined": "NP_001027005.1:p.Glu357_Ser1086delinsPheProIlePhePheLeuTyrMetMetIleAspGlyValPheArgGlyAsnProLysGlnValGlnGluTyrGlnAspLeuLeuThrProValLeuHisHisThrThrGluGlyTyrProValValProLysTyrTyrTyrValProAlaAspPheValGluTyrGluLysAsnAsnProGlySerGlnLysArgPheProSerAsnCysGlyArgAspGlyLysLeuPheLeuTrpGlyGlnAlaLeuTyrIleIleAlaLysLeuLeuAlaAspGluLeuIleSerProLysAspIleAspProValGlnArgTyrValProLeuLysAspGlnArgAsnValSerMetArgPheSerAsnGlnGlyProLeuGluAsnAspLeuValValHisValAlaLeuIleAlaGluSerGlnArgLeuGlnValPheLeuAsnThrTyrGlyIleGlnThrGlnThrProGlnGlnValGluProIleGlnIleTrpProGlnGlnGluLeuValLysAlaTyrLeuGlnLeuGlyIleAsnGluLysLeuGlyLeuSerGlyArgProAspArgProIleGlyCysLeuGlyThrSerLysIleTyrArgIleLeuGlyLysThrValValCysTyrProIleIlePheAspLeuSerAspPheTyrMetSerGlnAspValPheLeuLeuIleAspAspIleLysAsnAlaLeuGlnPheIleLysGlnTyrTrpLysMetHisGlyArgProLeuPheLeuValLeuIleArgGluAspAsnIleArgGlySerArgPheAsnProIleLeuAspMetLeuAlaAlaLeuLysLysGlyIleIleGlyGlyValLysValHisValAspArgLeuGlnThrLeuIleSerGlyAlaValValGluGlnLeuAspPheLeuArgIleSerAspThrGluGluLeuProGluPheLysSerPheGluGluLeuGluProProLysHisSerLysValLysArgGlnSerSerThrProSerAlaProGluLeuGlyGlnGlnProAspValAsnIleSerGluTrpLysAspLysProThrHisGluIleLeuGlnLysLeuAsnAspCysSerCysLeuAlaSerGlnAlaIleLeuLeuGlyIleLeuLeuLysArgGluGlyProAsnPheIleThrLysGluGlyThrValSerAspHisIleGluArgValTyrArgArgAlaGlySerGlnLysLeuTrpSerValValArgArgAlaAlaSerLeuLeuSerLysValValAspSerLeuAlaProSerIleThrAsnValLeuValGlnGlyLysGlnValThrLeuGlyAlaPheGlyHisGluGluGluValIleSerAsnProLeuSerProArgValIleGlnAsnIleIleTyrTyrLysCysAsnThrHisAspGluArgGluAlaValIleGlnGlnGluLeuValIleHisIleGlyTrpIleIleSerAsnAsnProGluLeuPheSerGlyMetLeuLysIleArgIleGlyTrpIleIleHisAlaMetGluTyrGluLeuGlnIleArgGlyGlyAspLysProAlaLeuAspLeuTyrGlnLeuSerProSerGluValLysGlnLeuLeuLeuAspIleLeuGlnProGlnGlnAsnGlyArgCysTrpLeuAsnArgArgGlnIleAspGlySerLeuAsnArgThrProThrGlyPheTyrAspArgValTrpGlnIleLeuGluArgThrProAsnGlyIleIleValAlaGlyLysHisLeuProGlnGlnProThrLeuSerAspMetThrMetTyrGluMetAsnPheSerLeuLeuValGluAspThrLeuGlyAsnIleAspGlnProGlnTyrArgGlnIleValValGluLeuLeuMetValValSerIleValLeuGluArgAsnProGluLeuGluPheGlnAspLysValAspLeuAspArgLeuValLysGluAlaPheAsnGluPheGlnLysAspGlnSerArgLeuLysGluIleGluLysGlnAspAspMetThrSerPheTyrAsnThrProProLeuGlyLysArgGlyThrCysSerTyrLeuThrLysAlaValMetAsnLeuLeuLeuGluGlyGluValLysProAsnAsnAspAspProCysLeuIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675749" } ], "type": "nucleotide" }