{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA252653", "communityStandardTitle": [ "NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=26051", "active": true, "id": "COSM26051" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18313[alleleid]", "alleleId": 18313, "preferredName": "NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3274", "RCV": [ "RCV000003433" ], "variationId": 3274 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.193094272C>G?assembly=hg19", "id": "chr1:g.193094272C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.193125142C>G?assembly=hg38", "id": "chr1:g.193125142C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121434265", "rs": 121434265 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"LRG_507:g.8185C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002517" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000367435.5:c.162C>G" ], "proteinEffect": { "hgvs": "ENSP00000356405.4:p.Tyr54Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762679" }, { "coordinates": [ { "allele": "G", "end": 366, "referenceAllele": "C", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000643006.1:c.162C>G" ], "proteinEffect": { "hgvs": "ENSP00000496633.1:p.Tyr54Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767038" }, { "coordinates": [ { "allele": "G", "end": 240, "referenceAllele": "C", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000643784.1:c.162C>G" ], "proteinEffect": { "hgvs": "ENSP00000494944.1:p.Tyr54Ter", "hgvsWellDefined": "ENSP00000494944.1:p.Tyr55_Val197delinsThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgPheCysValAsnIlePheGlnAspPheHisLeuValThrLysValIlePheLeuSerThrValIleLysValPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767470" }, { "coordinates": [ { "allele": "G", "end": 63, "referenceAllele": "C", "start": 62 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000647662.1:n.63C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS769542" }, { "coordinates": [ { "allele": "G", "end": 184, "referenceAllele": "C", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "ENST00000648071.1:c.162C>G" ], "proteinEffect": { "hgvs": "ENSP00000497513.1:p.Tyr54Ter", "hgvsWellDefined": "ENSP00000497513.1:p.Tyr55_Ser104delinsThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaTrpArgAspLeuGlySerLeuGlnProProProProGlyPheLysGlyPheSerCysLeuSerLeuProSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769774" }, { "coordinates": [ { "allele": "G", "end": 175, "referenceAllele": "C", "start": 174 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS037799" }, { "coordinates": [ { "allele": "G", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.2:c.162C>G" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Tyr54Ter", "hgvsWellDefined": "XP_006711600.1:p.Tyr55_Leu347delinsThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS069173" }, { "coordinates": [ { "allele": "C", "end": 303, "endIntronDirection": "-", "endIntronOffset": 834, "referenceAllele": "G", "start": 303, "startIntronDirection": "-", "startIntronOffset": 835 } ], "hgvs": [ "XR_241165.2:n.304-835G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS115984" }, { "coordinates": [ { "allele": "G", "end": 331, "referenceAllele": "C", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "XM_006711537.4:c.162C>G" ], "proteinEffect": { "hgvs": "XP_006711600.1:p.Tyr54Ter", "hgvsWellDefined": "XP_006711600.1:p.Tyr55_Leu347delinsThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrValPhePheLeuMetAspValSerPheSerValValLeuLeuValPheProAlaSerHisValProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538021" }, { "@id": "http://reg.genome.network/allele/PA252655", "coordinates": [ { "allele": "G", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN016783", "geneNCBI_id": 79577, "geneSymbol": "CDC73", "hgvs": [ "NM_024529.5:c.162C>G" ], "proteinEffect": { "hgvs": "NP_078805.3:p.Tyr54Ter", "hgvsWellDefined": "NP_078805.3:p.Tyr55_Phe531delinsThrLeuAspSerIleLeuPheLeuLeuAsnAsnValHisLeuSerHisProValTyrValArgArgAlaAlaThrGluAsnIleProValValArgArgProAspArgLysAspLeuLeuGlyTyrLeuAsnGlyGluAlaSerThrSerAlaSerIleAspArgSerAlaProLeuGluIleGlyLeuGlnArgSerThrGlnValLysArgAlaAlaAspGluValLeuAlaGluAlaLysLysProArgIleGluAspGluGluCysValArgLeuAspLysGluArgLeuAlaAlaArgLeuGluGlyHisLysGluGlyIleValGlnThrGluGlnIleArgSerLeuSerGluAlaMetSerValGluLysIleAlaAlaIleLysAlaLysIleMetAlaLysLysArgSerThrIleLysThrAspLeuAspAspAspIleThrAlaLeuLysGlnArgSerPheValAspAlaGluValAspValThrArgAspIleValSerArgGluArgValTrpArgThrArgThrThrIleLeuGlnSerThrGlyLysAsnPheSerLysAsnIlePheAlaIleLeuGlnSerValLysAlaArgGluGluGlyArgAlaProGluGlnArgProAlaProAsnAlaAlaProValAspProThrLeuArgThrLysGlnProIleProAlaAlaTyrAsnArgTyrAspGlnGluArgPheLysGlyLysGluGluThrGluGlyPheLysIleAspThrMetGlyThrTyrHisGlyMetThrLeuLysSerValThrGluGlyAlaSerAlaArgLysThrGlnThrProAlaAlaGlnProValProArgProValSerGlnAlaArgProProProAsnGlnLysLysGlySerArgThrProIleIleIleIleProAlaAlaThrThrSerLeuIleThrMetLeuAsnAlaLysAspLeuLeuGlnAspLeuLysPheValProSerAspGluLysLysLysGlnGlyCysGlnArgGluAsnGluThrLeuIleGlnArgArgLysAspGlnMetGlnProGlyGlyThrAlaIleSerValThrValProTyrArgValValAspGlnProLeuLysLeuMetProGlnAspTrpAspArgValValAlaValPheValGlnGlyProAlaTrpGlnPheLysGlyTrpProTrpLeuLeuProAspGlySerProValAspIlePheAlaLysIleLysAlaPheHisLeuLysTyrAspGluValArgLeuAspProAsnValGlnLysTrpAspValThrValLeuGluLeuSerTyrHisLysArgHisLeuAspArgProValPheLeuArgPheTrpGluThrLeuAspArgTyrMetValLysHisLysSerHisLeuArgPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698706", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367435.5:c.162C>G" }, "RefSeq": { "hgvs": "NM_024529.5:c.162C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356405.4:p.Tyr54Ter" }, "RefSeq": { "hgvs": "NP_078805.3:p.Tyr54Ter" } } } } ], "type": "nucleotide" }