{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA347181906", "communityStandardTitle": [ "NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=542315[alleleid]", "alleleId": 542315, "preferredName": "NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/554501", "RCV": [ "RCV000670148" ], "variationId": 554501 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.71187107G>T?assembly=hg19", "id": "chr2:g.71187107G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.70959977G>T?assembly=hg38", "id": "chr2:g.70959977G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1553419751", "rs": 1553419751 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 70959977, 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"ENSP00000234396.4:p.Glu162_Leu513delinsMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248918" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000412314.5:c.484G>T" ], "proteinEffect": { "hgvs": "ENSP00000388353.1:p.Glu162Ter", "hgvsWellDefined": "ENSP00000388353.1:p.Glu162_Leu496delinsMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282553" }, { "coordinates": [ { "allele": "T", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000432098.1:c.124G>T" ], "proteinEffect": { "hgvs": "ENSP00000387599.1:p.Glu42Ter", "hgvsWellDefined": "ENSP00000387599.1:p.Glu42Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS291939" }, { "coordinates": [ { "allele": "T", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000432367.5:c.484G>T" ], "proteinEffect": { "hgvs": "ENSP00000405114.1:p.Glu162Ter", "hgvsWellDefined": "ENSP00000405114.1:p.Glu162_Val248delinsMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValArgArgLeuSerArgLeuAlaSerGluHisGlyAspSerGlnIleLeuGlnValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292056" }, { "coordinates": [ { "allele": "A", "end": 142, "endIntronDirection": "-", "endIntronOffset": 11601, "referenceAllele": "C", "start": 142, "startIntronDirection": "-", "startIntronOffset": 11602 } ], "hgvs": [ "ENST00000453130.1:c.143-11602C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS301948" }, { "coordinates": [ { "allele": "T", "end": 650, "referenceAllele": "G", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000454446.5:c.535G>T" ], "proteinEffect": { "hgvs": "ENSP00000408361.1:p.Glu179Ter", "hgvsWellDefined": "ENSP00000408361.1:p.Glu179Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS302565" }, { "coordinates": [ { "allele": "T", "end": 39, "referenceAllele": "G", "start": 38 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "ENST00000495118.1:n.39G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331888" }, { "coordinates": [ { "allele": "A", "end": 1054, "endIntronDirection": "-", "endIntronOffset": 17543, "referenceAllele": "C", "start": 1054, "startIntronDirection": "-", "startIntronOffset": 17544 } ], "hgvs": [ "ENST00000606025.5:c.476-17544C>A" ], "proteinEffect": { "hgvs": "ENSP00000475641.1:n.476-17544C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS399637" }, { "@id": "http://reg.genome.network/allele/PA658829674", "coordinates": [ { "allele": "T", "end": 571, "referenceAllele": "G", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "NM_001692.3:c.484G>T" ], "proteinEffect": { "hgvs": "NP_001683.2:p.Glu162Ter", "hgvsWellDefined": "NP_001683.2:p.Glu162_Leu513delinsMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS027030" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "G", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "XM_011532907.1:c.604G>T" ], "proteinEffect": { "hgvs": "XP_011531209.1:p.Glu202Ter", "hgvsWellDefined": "XP_011531209.1:p.Glu202_Leu553delinsMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099933" }, { "@id": "http://reg.genome.network/allele/PA658829674", "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "G", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "NM_001692.4:c.484G>T" ], "proteinEffect": { "hgvs": "NP_001683.2:p.Glu162Ter", "hgvsWellDefined": "NP_001683.2:p.Glu162_Leu513delinsMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524901", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234396.10:c.484G>T" }, "RefSeq": { "hgvs": "NM_001692.4:c.484G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234396.4:p.Glu162Ter" }, "RefSeq": { "hgvs": "NP_001683.2:p.Glu162Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "G", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN000853", "geneNCBI_id": 525, "geneSymbol": "ATP6V1B1", "hgvs": [ "XM_011532907.2:c.604G>T" ], "proteinEffect": { "hgvs": "XP_011531209.1:p.Glu202Ter", "hgvsWellDefined": "XP_011531209.1:p.Glu202_Leu553delinsMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS551020" } ], "type": "nucleotide" }