{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117296", "communityStandardTitle": [ "NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20197[alleleid]", "alleleId": 20197, "preferredName": "NM_020632.3(ATP6V0A4):c.1506T>A (p.Tyr502Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5158", "RCV": [ "RCV001807632" ], "variationId": 5158 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.138424351A>T?assembly=hg19", "id": "chr7:g.138424351A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.138739606A>T?assembly=hg38", "id": "chr7:g.138739606A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121908369", "rs": 121908369 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 138739606, "referenceAllele": "A", "start": 138739605 } ], "hgvs": [ "NC_000007.14:g.138739606A>T", "CM000669.2:g.138739606A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 138424351, "referenceAllele": "A", "start": 138424350 } ], "hgvs": [ "NC_000007.13:g.138424351A>T", "CM000669.1:g.138424351A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 138074891, "referenceAllele": "A", "start": 138074890 } ], "hgvs": [ "NC_000007.12:g.138074891A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 63591, "referenceAllele": "T", "start": 63590 } ], "hgvs": [ "NG_008145.1:g.63591T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000891" } ], "transcriptAlleles": [ { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS745596", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310018.7:c.1506T>A" }, "RefSeq": { "hgvs": "NM_020632.3:c.1506T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308122.2:p.Tyr502Ter" }, "RefSeq": { "hgvs": "NP_065683.2:p.Tyr502Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 993, "referenceAllele": "T", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "ENST00000478480.2:c.732T>A" ], "proteinEffect": { "hgvs": "ENSP00000495261.1:p.Tyr244Ter", "hgvsWellDefined": 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{ "hgvs": "ENSP00000495642.1:p.Tyr244Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767770" }, { "coordinates": [ { "allele": "A", "end": 1705, "referenceAllele": "T", "start": 1704 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "ENST00000645515.1:c.1506T>A" ], "proteinEffect": { "hgvs": "ENSP00000496421.1:p.Tyr502Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS768393" }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "T", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "ENST00000647427.1:c.399T>A" ], "proteinEffect": { "hgvs": "ENSP00000496259.1:p.Tyr133Ter", "hgvsWellDefined": "ENSP00000496259.1:p.Tyr133_Trp353delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluAsnCysLeuLysCysSerGlyLeuTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769405" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "T", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "ENST00000310018.6:c.1506T>A" ], "proteinEffect": { "hgvs": "ENSP00000308122.2:p.Tyr502Ter", "hgvsWellDefined": "ENSP00000308122.2:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256302" }, { "coordinates": [ { "allele": "A", "end": 1594, "referenceAllele": "T", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "ENST00000353492.4:c.1506T>A" ], "proteinEffect": { "hgvs": "ENSP00000253856.6:p.Tyr502Ter", "hgvsWellDefined": "ENSP00000253856.6:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262973" }, { "coordinates": [ { "allele": "A", "end": 1744, "referenceAllele": "T", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "ENST00000393054.5:c.1506T>A" ], "proteinEffect": { "hgvs": "ENSP00000376774.1:p.Tyr502Ter", "hgvsWellDefined": "ENSP00000376774.1:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS275426" }, { "coordinates": [ { "allele": "A", "end": 251, "endIntronDirection": "-", "endIntronOffset": 5351, "referenceAllele": "T", "start": 251, "startIntronDirection": "-", "startIntronOffset": 5352 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "ENST00000471085.1:n.252-5352T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS313367" }, { "@id": "http://reg.genome.network/allele/PA117297", "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "T", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "NM_020632.2:c.1506T>A" ], "proteinEffect": { "hgvs": "NP_065683.2:p.Tyr502Ter", "hgvsWellDefined": "NP_065683.2:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036458" }, { "@id": "http://reg.genome.network/allele/PA2830185470", "coordinates": [ { "allele": "A", "end": 1686, "referenceAllele": "T", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "NM_130840.2:c.1506T>A" ], "proteinEffect": { "hgvs": "NP_570855.2:p.Tyr502Ter", "hgvsWellDefined": "NP_570855.2:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040434" }, { "@id": "http://reg.genome.network/allele/PA916060243", "coordinates": [ { "allele": "A", "end": 1744, "referenceAllele": "T", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "NM_130841.2:c.1506T>A" ], "proteinEffect": { "hgvs": "NP_570856.2:p.Tyr502Ter", "hgvsWellDefined": "NP_570856.2:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040435" }, { "coordinates": [ { "allele": "A", "end": 2136, "referenceAllele": "T", "start": 2135 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "XM_005250393.1:c.1506T>A" ], "proteinEffect": { "hgvs": "XP_005250450.1:p.Tyr502Ter", "hgvsWellDefined": "XP_005250450.1:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059159" }, { "coordinates": [ { "allele": "A", "end": 1841, "referenceAllele": "T", "start": 1840 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "XM_005250394.2:c.1506T>A" ], "proteinEffect": { "hgvs": "XP_005250451.1:p.Tyr502Ter", "hgvsWellDefined": "XP_005250451.1:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059160" }, { "coordinates": [ { "allele": "A", "end": 2048, "referenceAllele": "T", "start": 2047 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "XM_005250394.3:c.1506T>A" ], "proteinEffect": { "hgvs": "XP_005250451.1:p.Tyr502Ter", "hgvsWellDefined": "XP_005250451.1:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533428" }, { "@id": "http://reg.genome.network/allele/PA117297", "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "T", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "NM_020632.3:c.1506T>A" ], "proteinEffect": { "hgvs": "NP_065683.2:p.Tyr502Ter", "hgvsWellDefined": "NP_065683.2:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670033", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000310018.7:c.1506T>A" }, "RefSeq": { "hgvs": "NM_020632.3:c.1506T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308122.2:p.Tyr502Ter" }, "RefSeq": { "hgvs": "NP_065683.2:p.Tyr502Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830185470", "coordinates": [ { "allele": "A", "end": 1686, "referenceAllele": "T", "start": 1685 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "NM_130840.3:c.1506T>A" ], "proteinEffect": { "hgvs": "NP_570855.2:p.Tyr502Ter", "hgvsWellDefined": "NP_570855.2:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699617" }, { "@id": "http://reg.genome.network/allele/PA916060243", "coordinates": [ { "allele": "A", "end": 1642, "referenceAllele": "T", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN000866", "geneNCBI_id": 50617, "geneSymbol": "ATP6V0A4", "hgvs": [ "NM_130841.3:c.1506T>A" ], "proteinEffect": { "hgvs": "NP_570856.2:p.Tyr502Ter", "hgvsWellDefined": "NP_570856.2:p.Tyr502_Glu840delinsLeuGlnLeuAspProAlaIleProGlyValTyrPheGlyAsnProTyrProPheGlyIleAspProIleTrpAsnLeuAlaSerAsnLysLeuThrPheLeuAsnSerTyrLysMetLysMetSerValIleLeuGlyIleValGlnMetValPheGlyValIleLeuSerLeuPheAsnHisIleTyrPheArgArgThrLeuAsnIleIleLeuGlnPheIleProGluMetIlePheIleLeuCysLeuPheGlyTyrLeuValPheMetIleIlePheLysTrpCysCysPheAspValHisValSerGlnHisAlaProSerIleLeuIleHisPheIleAsnMetPheLeuPheAsnTyrSerAspSerSerAsnAlaProLeuTyrLysHisGlnGlnGluValGlnSerPhePheValValMetAlaLeuIleSerValProTrpMetLeuLeuIleLysProPheIleLeuArgAlaSerHisArgLysSerGlnLeuGlnAlaSerArgIleGlnGluAspAlaThrGluAsnIleGluGlyAspSerSerSerProSerSerArgSerGlyGlnArgThrSerAlaAspThrHisGlyAlaLeuAspAspHisGlyGluGluPheAsnPheGlyAspValPheValHisGlnAlaIleHisThrIleGluTyrCysLeuGlyCysIleSerAsnThrAlaSerTyrLeuArgLeuTrpAlaLeuSerLeuAlaHisAlaGlnLeuSerGluValLeuTrpThrMetValMetAsnSerGlyLeuGlnThrArgGlyTrpGlyGlyIleValGlyValPheIleIlePheAlaValPheAlaValLeuThrValAlaIleLeuLeuIleMetGluGlyLeuSerAlaPheLeuHisAlaLeuArgLeuHisTrpValGluPheGlnAsnLysPheTyrValGlyAspGlyTyrLysPheSerProPheSerPheLysHisIleLeuAspGlyThrAlaGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729089" } ], "type": "nucleotide" }