{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA347178458", "communityStandardTitle": [ "NM_001692.4(ATP6V1B1):c.123C>G (p.Tyr41Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1438932[alleleid]", "alleleId": 1438932, "preferredName": "NM_001692.4(ATP6V1B1):c.123C>G (p.Tyr41Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1452175", "RCV": [ "RCV002007589" ], "variationId": 1452175 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71170792C>G?assembly=hg19", "id": "chr2:g.71170792C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.70943662C>G?assembly=hg38", "id": "chr2:g.70943662C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/782151715", "rs": 782151715 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-71170792-C-G?dataset=gnomad_r2_1", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS248918" }, { "coordinates": [ { "allele": "G", "end": 157, "referenceAllele": "C", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000412314.5:c.123C>G" ], "proteinEffect": { "hgvs": "ENSP00000388353.1:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000388353.1:p.Tyr41_Leu496delinsArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282553" }, { "coordinates": [ { "allele": "G", "end": 85, "referenceAllele": "C", "start": 84 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000432098.1:c.-238C>G" ], "proteinEffect": { "hgvs": "ENSP00000387599.1:n.-238C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS291939" }, { "coordinates": [ { "allele": "G", "end": 176, "referenceAllele": "C", "start": 175 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000432367.5:c.123C>G" ], "proteinEffect": { "hgvs": "ENSP00000405114.1:p.Tyr41Ter", "hgvsWellDefined": "ENSP00000405114.1:p.Tyr41_Val248delinsArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValArgArgLeuSerArgLeuAlaSerGluHisGlyAspSerGlnIleLeuGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292056" }, { "coordinates": [ { "allele": "G", "end": 289, "referenceAllele": "C", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000454446.5:c.174C>G" ], "proteinEffect": { "hgvs": "ENSP00000408361.1:p.Tyr58Ter", "hgvsWellDefined": "ENSP00000408361.1:p.Tyr58Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302565" }, { "coordinates": [ { "allele": "C", "end": 1054, "endIntronDirection": "-", "endIntronOffset": 1228, "referenceAllele": "G", "start": 1054, "startIntronDirection": "-", "startIntronOffset": 1229 } ], "hgvs": [ "ENST00000606025.5:c.476-1229G>C" ], "proteinEffect": { "hgvs": "ENSP00000475641.1:n.476-1229G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS399637" }, { "@id": "http://reg.genome.network/allele/PA2573220071", "coordinates": [ { "allele": "G", "end": 210, "referenceAllele": "C", "start": 209 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "NM_001692.3:c.123C>G" ], "proteinEffect": { "hgvs": "NP_001683.2:p.Tyr41Ter", "hgvsWellDefined": "NP_001683.2:p.Tyr41_Leu513delinsArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027030" }, { "coordinates": [ { "allele": "C", "end": 523, "endIntronDirection": "-", "endIntronOffset": 1228, "referenceAllele": "G", "start": 523, "startIntronDirection": "-", "startIntronOffset": 1229 } ], "gene": "http://reg.genome.network/gene/GN051118", "geneNCBI_id": 101927750, "geneSymbol": "ATP6V1B1-AS1", "hgvs": [ "NR_110273.1:n.524-1229G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS054554" }, { "coordinates": [ { "allele": "C", "end": 385, "endIntronDirection": "-", "endIntronOffset": 1228, "referenceAllele": "G", "start": 385, "startIntronDirection": "-", "startIntronOffset": 1229 } ], "gene": "http://reg.genome.network/gene/GN051118", "geneNCBI_id": 101927750, "geneSymbol": "ATP6V1B1-AS1", "hgvs": [ "NR_110274.1:n.386-1229G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS054555" }, { "@id": "http://reg.genome.network/allele/PA2573220071", "coordinates": [ { "allele": "G", "end": 178, "referenceAllele": "C", "start": 177 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "NM_001692.4:c.123C>G" ], "proteinEffect": { "hgvs": "NP_001683.2:p.Tyr41Ter", "hgvsWellDefined": "NP_001683.2:p.Tyr41_Leu513delinsArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234396.10:c.123C>G" }, "RefSeq": { "hgvs": "NM_001692.4:c.123C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234396.4:p.Tyr41Ter" }, "RefSeq": { "hgvs": "NP_001683.2:p.Tyr41Ter" } } } } ], "type": "nucleotide" }