{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA347182106", "communityStandardTitle": [ "NM_001692.4(ATP6V1B1):c.541C>T (p.Gln181Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2752692[alleleid]", "alleleId": 2752692, "preferredName": "NM_001692.4(ATP6V1B1):c.541C>T (p.Gln181Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2585130", "RCV": [ "RCV003337746" ], "variationId": 2585130 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71187164C>T?assembly=hg19", "id": "chr2:g.71187164C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.70960034C>T?assembly=hg38", "id": "chr2:g.70960034C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553419769", "rs": 1553419769 } ], "gnomAD_2": [ { "@id": 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"referenceSequence": "http://reg.genome.network/refseq/RS282553" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000432098.1:c.181C>T" ], "proteinEffect": { "hgvs": "ENSP00000387599.1:p.Gln61Ter", "hgvsWellDefined": "ENSP00000387599.1:p.Gln61Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS291939" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "C", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000432367.5:c.541C>T" ], "proteinEffect": { "hgvs": "ENSP00000405114.1:p.Gln181Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS302565" }, { "coordinates": [ { "allele": "T", "end": 96, "referenceAllele": "C", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000495118.1:n.96C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331888" }, { "coordinates": [ { "allele": "A", "end": 1054, "endIntronDirection": "-", "endIntronOffset": 17600, "referenceAllele": "G", "start": 1054, "startIntronDirection": "-", "startIntronOffset": 17601 } ], "hgvs": [ "ENST00000606025.5:c.476-17601G>A" ], "proteinEffect": { "hgvs": "ENSP00000475641.1:n.476-17601G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS399637" }, { "@id": "http://reg.genome.network/allele/PA2741887379", "coordinates": [ { "allele": "T", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "NM_001692.3:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001683.2:p.Gln181Ter", "hgvsWellDefined": "NP_001683.2:p.Gln181_Leu513delinsLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027030" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "C", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "XM_011532907.1:c.661C>T" ], "proteinEffect": { "hgvs": "XP_011531209.1:p.Gln221Ter", "hgvsWellDefined": "XP_011531209.1:p.Gln221_Leu553delinsLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099933" }, { "@id": "http://reg.genome.network/allele/PA2741887379", "coordinates": [ { "allele": "T", "end": 596, "referenceAllele": "C", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "NM_001692.4:c.541C>T" ], "proteinEffect": { "hgvs": "NP_001683.2:p.Gln181Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS524901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234396.10:c.541C>T" }, "RefSeq": { "hgvs": "NM_001692.4:c.541C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234396.4:p.Gln181Ter" }, "RefSeq": { "hgvs": "NP_001683.2:p.Gln181Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "C", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "XM_011532907.2:c.661C>T" ], "proteinEffect": { "hgvs": "XP_011531209.1:p.Gln221Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS551020" } ], "type": "nucleotide" }