{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA366241596", "communityStandardTitle": [ "NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2523804[alleleid]", "alleleId": 2523804, "preferredName": "NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2500909", "RCV": [ "RCV003226094" ], "variationId": 2500909 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157522163C>T?assembly=hg19", "id": "chr6:g.157522163C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.157201029C>T?assembly=hg38", "id": "chr6:g.157201029C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1380267781", "rs": 1380267781 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "T", "end": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748305" }, { "coordinates": [ { "allele": "T", "end": 4396, "referenceAllele": "C", "start": 4395 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000350026.10:c.4396C>T" ], "proteinEffect": { "hgvs": "ENSP00000055163.7:p.Gln1466Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS769702" }, { "coordinates": [ { "allele": "T", "end": 4991, "referenceAllele": "C", "start": 4990 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "ENST00000346085.9:c.4435C>T" ], "proteinEffect": { "hgvs": "ENSP00000344546.4:p.Gln1479Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS034978" }, { "@id": "http://reg.genome.network/allele/PA2829951113", "coordinates": [ { "allele": "T", "end": 4435, "referenceAllele": "C", "start": 4434 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_020732.3:c.4435C>T" ], "proteinEffect": { "hgvs": "NP_065783.3:p.Gln1479Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS036539" }, { "coordinates": [ { "allele": "T", "end": 4593, "referenceAllele": "C", "start": 4592 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_005267069.3:c.4555C>T" ], "proteinEffect": { "hgvs": "XP_005267126.2:p.Gln1519Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065283" }, { "coordinates": [ { "allele": "T", "end": 3730, "referenceAllele": "C", "start": 3729 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535984.1:c.3634C>T" ], "proteinEffect": { "hgvs": "XP_011534286.1:p.Gln1212Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102986" }, { "coordinates": [ { "allele": "T", "end": 3519, "referenceAllele": "C", "start": 3518 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535985.1:c.3454C>T" ], "proteinEffect": { "hgvs": "XP_011534287.1:p.Gln1152Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102987" }, { "coordinates": [ { "allele": "T", "end": 3244, "referenceAllele": "C", "start": 3243 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535986.1:c.3214C>T" ], "proteinEffect": { "hgvs": "XP_011534288.1:p.Gln1072Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102988" }, { "coordinates": [ { "allele": "T", "end": 2848, "referenceAllele": "C", "start": 2847 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535987.1:c.2833C>T" ], "proteinEffect": { "hgvs": "XP_011534289.1:p.Gln945Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102989" }, { "coordinates": [ { "allele": "T", "end": 1795, "referenceAllele": "C", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XM_011535988.1:c.1696C>T" ], "proteinEffect": { "hgvs": "XP_011534290.1:p.Gln566Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS102990" }, { "@id": "http://reg.genome.network/allele/PA2827385666", "coordinates": [ { "allele": "T", "end": 4630, "referenceAllele": "C", "start": 4629 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001346813.1:c.4555C>T" ], "proteinEffect": { "hgvs": "NP_001333742.1:p.Gln1519Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS517678" }, { "@id": "http://reg.genome.network/allele/PA2580218579", "coordinates": [ { "allele": "T", "end": 2699, "referenceAllele": "C", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.1:c.2305C>T" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Gln769Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS565026" }, { "coordinates": [ { "allele": "T", "end": 4751, "referenceAllele": "C", "start": 4750 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "XR_002956289.1:n.4751C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602451" }, { "@id": "http://reg.genome.network/allele/PA2580218579", "coordinates": [ { "allele": "T", "end": 2694, "referenceAllele": "C", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001363725.2:c.2305C>T" ], "proteinEffect": { "hgvs": "NP_001350654.1:p.Gln769Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS690754" }, { "@id": "http://reg.genome.network/allele/PA2828448711", "coordinates": [ { "allele": "T", "end": 5604, "referenceAllele": "C", "start": 5603 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001371656.1:c.4684C>T" ], "proteinEffect": { "hgvs": "NP_001358585.1:p.Gln1562Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS693001" }, { "@id": "http://reg.genome.network/allele/PA2828553698", "coordinates": [ { "allele": "T", "end": 4987, "referenceAllele": "C", "start": 4986 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374820.1:c.4684C>T" ], "proteinEffect": { "hgvs": "NP_001361749.1:p.Gln1562Ter", "hgvsWellDefined": "NP_001361749.1:p.Gln1562_Leu2332delinsGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693382" }, { "@id": "http://reg.genome.network/allele/PA2828555493", "coordinates": [ { "allele": "T", "end": 5107, "referenceAllele": "C", "start": 5106 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_001374828.1:c.4804C>T" ], "proteinEffect": { "hgvs": "NP_001361757.1:p.Gln1602Ter", "hgvsWellDefined": "NP_001361757.1:p.Gln1602_Leu2372delinsGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693389", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636930.2:c.4804C>T" }, "RefSeq": { "hgvs": "NM_001374828.1:c.4804C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490491.2:p.Gln1602Ter" }, "RefSeq": { "hgvs": "NP_001361757.1:p.Gln1602Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829869079", "coordinates": [ { "allele": "T", "end": 4948, "referenceAllele": "C", "start": 4947 } ], "gene": "http://reg.genome.network/gene/GN018040", "geneNCBI_id": 57492, "geneSymbol": "ARID1B", "hgvs": [ "NM_017519.3:c.4645C>T" ], "proteinEffect": { "hgvs": "NP_059989.3:p.Gln1549Ter", "hgvsWellDefined": "NP_059989.3:p.Gln1549_Leu2319delinsGlyProGlyGlyProThrGlnAlaProProTyrProGlyMetAsnArgThrAspAspMetMetValProAspGlnArgIleAsnHisGluSerGlnTrpProSerHisValSerGlnArgGlnProTyrMetSerSerSerAlaSerMetGlnProIleThrArgProProGlnProSerTyrGlnThrProProSerLeuProAsnHisIleSerArgAlaProSerProAlaSerPheGlnArgSerLeuGluAsnArgMetSerProSerLysSerProPheLeuProSerMetLysMetGlnLysValMetProThrValProThrSerGlnValThrGlyProProProGlnProProProIleArgArgGluIleThrPheProProGlySerValGluAlaSerGlnProValLeuLysGlnArgArgLysIleThrSerLysAspIleValThrProGluAlaTrpArgValMetMetSerLeuLysSerGlyLeuLeuAlaGluSerThrTrpAlaLeuAspThrIleAsnIleLeuLeuTyrAspAspSerThrValAlaThrPheAsnLeuSerGlnLeuSerGlyPheLeuGluLeuLeuValGluTyrPheArgLysCysLeuIleAspIlePheGlyIleLeuMetGluTyrGluValGlyAspProSerGlnLysAlaLeuAspHisAsnAlaAlaArgLysAspAspSerGlnSerLeuAlaAspAspSerGlyLysGluGluGluAspAlaGluCysIleAspAspAspGluGluAspGluGluAspGluGluGluAspSerGluLysThrGluSerAspGluLysSerSerIleAlaLeuThrAlaProAspAlaAlaAlaAspProLysGluLysProLysGlnAlaSerLysPheAspLysLeuProIleLysIleValLysLysAsnAsnLeuPheValValAspArgSerAspLysLeuGlyArgValGlnGluPheAsnSerGlyLeuLeuHisTrpGlnLeuGlyGlyGlyAspThrThrGluHisIleGlnThrHisPheGluSerLysMetGluIleProProArgArgArgProProProProLeuSerSerAlaGlyArgLysLysGluGlnGluGlyLysGlyAspSerGluGluGlnGlnGluLysSerIleIleAlaThrIleAspAspValLeuSerAlaArgProGlyAlaLeuProGluAspAlaAsnProGlyProGlnThrGluSerSerLysPheProPheGlyIleGlnGlnAlaLysSerHisArgAsnIleLysLeuLeuGluAspGluProArgSerArgAspGluThrProLeuCysThrIleAlaHisTrpGlnAspSerLeuAlaLysArgCysIleCysValSerAsnIleValArgSerLeuSerPheValProGlyAsnAspAlaGluMetSerLysHisProGlyLeuValLeuIleLeuGlyLysLeuIleLeuLeuHisHisGluHisProGluArgLysArgAlaProGlnThrTyrGluLysGluGluAspGluAspLysGlyValAlaCysSerLysAspGluTrpTrpTrpAspCysLeuGluValLeuArgAspAsnThrLeuValThrLeuAlaAsnIleSerGlyGlnLeuAspLeuSerAlaTyrThrGluSerIleCysLeuProIleLeuAspGlyLeuLeuHisTrpMetValCysProSerAlaGluAlaGlnAspProPheProThrValGlyProAsnSerValLeuSerProGlnArgLeuValLeuGluThrLeuCysLysLeuSerIleGlnAspAsnAsnValAspLeuIleLeuAlaThrProProPheSerArgGlnGluLysPheTyrAlaThrLeuValArgTyrValGlyAspArgLysAsnProValCysArgGluMetSerMetAlaLeuLeuSerAsnLeuAlaGlnGlyAspAlaLeuAlaAlaArgAlaIleAlaValGlnLysGlySerIleGlyAsnLeuIleSerPheLeuGluAspGlyValThrMetAlaGlnTyrGlnGlnSerGlnHisAsnLeuMetHisMetGlnProProProLeuGluProProSerValAspMetMetCysArgAlaAlaLysAlaLeuLeuAlaMetAlaArgValAspGluAsnArgSerGluPheLeuLeuHisGluGlyArgLeuLeuAspIleSerIleSerAlaValLeuAsnSerLeuValAlaSerValIleCysAspValLeuPheGlnIleGlyGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697814" } ], "type": "nucleotide" }