{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8974145", "communityStandardTitle": [ "NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4849356", "active": true, "id": "COSM4849356" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=586255[alleleid]", "alleleId": 586255, "preferredName": "NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/595193", "RCV": [ "RCV000730680", "RCV003485636" ], "variationId": 595193 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/18-55322503-G-A", "id": "18-55322503-G-A", "variant": "18:55322503 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.55322503G>A?assembly=hg19", "id": "chr18:g.55322503G>A" } ], "MyVariantInfo_hg38": [ { "@id": 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"http://reg.genome.network/refseq/RS093131" }, { "coordinates": [ { "allele": "T", "end": 2374, "referenceAllele": "C", "start": 2373 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526024.1:c.2134C>T" ], "proteinEffect": { "hgvs": "XP_011524326.1:p.Arg712Ter", "hgvsWellDefined": "XP_011524326.1:p.Arg712_Ser1011delinsTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093132" }, { "@id": "http://reg.genome.network/allele/PA913198241", "coordinates": [ { "allele": "T", "end": 3194, "referenceAllele": "C", "start": 3193 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_005603.6:c.2854C>T" ], "proteinEffect": { "hgvs": "NP_005594.2:p.Arg952Ter", "hgvsWellDefined": "NP_005594.2:p.Arg952_Ser1251delinsTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525329" }, { "coordinates": [ { "allele": "T", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_006722481.4:c.2854C>T" ], "proteinEffect": { "hgvs": "XP_006722544.1:p.Arg952Ter", "hgvsWellDefined": "XP_006722544.1:p.Arg952_Ser1251delinsTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540549" }, { "coordinates": [ { "allele": "T", "end": 3590, "referenceAllele": "C", "start": 3589 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "XM_011526023.3:c.2740C>T" ], "proteinEffect": { "hgvs": "XP_011524325.1:p.Arg914Ter", "hgvsWellDefined": "XP_011524325.1:p.Arg914_Ser1213delinsTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS548105" }, { "@id": "http://reg.genome.network/allele/PA2828509682", "coordinates": [ { "allele": "T", "end": 3197, "referenceAllele": "C", "start": 3196 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374385.1:c.2854C>T" ], "proteinEffect": { "hgvs": "NP_001361314.1:p.Arg952Ter", "hgvsWellDefined": "NP_001361314.1:p.Arg952_Ser1251delinsTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693251", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648908.2:c.2854C>T" }, "RefSeq": { "hgvs": "NM_001374385.1:c.2854C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497896.1:p.Arg952Ter" }, "RefSeq": { "hgvs": "NP_001361314.1:p.Arg952Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828510182", "coordinates": [ { "allele": "T", "end": 3099, "referenceAllele": "C", "start": 3098 } ], "gene": "http://reg.genome.network/gene/GN003706", "geneNCBI_id": 5205, "geneSymbol": "ATP8B1", "hgvs": [ "NM_001374386.1:c.2704C>T" ], "proteinEffect": { "hgvs": "NP_001361315.1:p.Arg902Ter", "hgvsWellDefined": "NP_001361315.1:p.Arg902_Ser1201delinsTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693252" }, { "coordinates": [ { "allele": "A", "end": 682, "endIntronDirection": "-", "endIntronOffset": 12734, "referenceAllele": "G", "start": 682, "startIntronDirection": "-", "startIntronOffset": 12735 } ], "gene": "http://reg.genome.network/gene/GN056042", "geneNCBI_id": 100505549, "geneSymbol": "ATP8B1-AS1", "hgvs": [ "NR_164148.1:n.683-12735G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705709" } ], "type": "nucleotide" }