{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA385600197", "communityStandardTitle": [ "NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=193838", "active": true, "id": "COSM193838" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=611774[alleleid]", "alleleId": 611774, "preferredName": "NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/620149", "RCV": [ "RCV000760459", "RCV002536579" ], "variationId": 620149 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.64878159C>T?assembly=hg19", "id": "chr12:g.64878159C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.64484379C>T?assembly=hg38", "id": "chr12:g.64484379C>T" } ], "dbSNP": [ { "@id": 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"NP_037386.1:p.Arg358_Leu729delinsLeuValLeuGluProGlyArgLeuAlaGlnHisPheProLysThrThrGluGluAsnProIlePheValValSerArgGluProLeuAsnThrIleGlyLeuIleTyrGluLysIleSerLeuProLysValHisProArgTyrAspLeuAspGlyAspAlaSerMetAlaLysAlaIleThrGlyValValCysTyrAlaCysArgIleAlaSerThrLeuLeuLeuTyrGlnGluLeuMetArgLysGlyIleArgTrpLeuIleGluLeuIleLysAspAspTyrAsnGluThrValHisLysLysThrGluValValIleThrLeuAspPheCysIleArgAsnIleGluLysThrValLysValTyrGluLysLeuMetLysIleAsnLeuGluAlaAlaGluLeuGlyGluIleSerAspIleHisThrLysLeuLeuArgLeuSerSerSerGlnGlyThrIleGluThrSerLeuGlnAspIleAspSerArgLeuSerProGlyGlySerLeuAlaAspAlaTrpAlaHisGlnGluGlyThrHisProLysAspArgAsnValGluLysLeuGlnValLeuLeuAsnCysMetThrGluIleTyrTyrGlnPheLysLysAspLysAlaGluArgArgLeuAlaTyrAsnGluGluGlnIleHisLysPheAspLysGlnLysLeuTyrTyrHisAlaThrLysAlaMetThrHisPheThrAspGluCysValLysLysTyrGluAlaPheLeuAsnLysSerGluGluTrpIleArgLysMetLeuHisLeuArgLysGlnLeuLeuSerLeuThrAsnGlnCysPheAspIleGluGluGluValSerLysTyrGlnGluTyrThrAsnGluLeuGlnGluThrLeuProGlnLysMetPheThrAlaSerSerGlyIleLysHisThrMetThrProIleTyrProSerSerAsnThrLeuValGluMetThrLeuGlyMetLysLysLeuLysGluGluMetGluGlyValValLysGluLeuAlaGluAsnAsnHisIleLeuGluArgPheGlySerLeuThrMetAspGlyGlyLeuArgAsnValAspCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032659" }, { "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN011584", "geneNCBI_id": 29110, "geneSymbol": "TBK1", "hgvs": [ "XM_005268809.1:c.1069C>T" ], "proteinEffect": { "hgvs": "XP_005268866.1:p.Arg357Ter", "hgvsWellDefined": "XP_005268866.1:p.Arg358_Leu729delinsLeuValLeuGluProGlyArgLeuAlaGlnHisPheProLysThrThrGluGluAsnProIlePheValValSerArgGluProLeuAsnThrIleGlyLeuIleTyrGluLysIleSerLeuProLysValHisProArgTyrAspLeuAspGlyAspAlaSerMetAlaLysAlaIleThrGlyValValCysTyrAlaCysArgIleAlaSerThrLeuLeuLeuTyrGlnGluLeuMetArgLysGlyIleArgTrpLeuIleGluLeuIleLysAspAspTyrAsnGluThrValHisLysLysThrGluValValIleThrLeuAspPheCysIleArgAsnIleGluLysThrValLysValTyrGluLysLeuMetLysIleAsnLeuGluAlaAlaGluLeuGlyGluIleSerAspIleHisThrLysLeuLeuArgLeuSerSerSerGlnGlyThrIleGluThrSerLeuGlnAspIleAspSerArgLeuSerProGlyGlySerLeuAlaAspAlaTrpAlaHisGlnGluGlyThrHisProLysAspArgAsnValGluLysLeuGlnValLeuLeuAsnCysMetThrGluIleTyrTyrGlnPheLysLysAspLysAlaGluArgArgLeuAlaTyrAsnGluGluGlnIleHisLysPheAspLysGlnLysLeuTyrTyrHisAlaThrLysAlaMetThrHisPheThrAspGluCysValLysLysTyrGluAlaPheLeuAsnLysSerGluGluTrpIleArgLysMetLeuHisLeuArgLysGlnLeuLeuSerLeuThrAsnGlnCysPheAspIleGluGluGluValSerLysTyrGlnGluTyrThrAsnGluLeuGlnGluThrLeuProGlnLysMetPheThrAlaSerSerGlyIleLysHisThrMetThrProIleTyrProSerSerAsnThrLeuValGluMetThrLeuGlyMetLysLysLeuLysGluGluMetGluGlyValValLysGluLeuAlaGluAsnAsnHisIleLeuGluArgPheGlySerLeuThrMetAspGlyGlyLeuArgAsnValAspCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065884" }, { "coordinates": [ { "allele": "T", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN011584", "geneNCBI_id": 29110, "geneSymbol": "TBK1", "hgvs": [ "XM_005268810.1:c.1069C>T" ], "proteinEffect": { "hgvs": "XP_005268867.1:p.Arg357Ter", "hgvsWellDefined": "XP_005268867.1:p.Arg358_Leu729delinsLeuValLeuGluProGlyArgLeuAlaGlnHisPheProLysThrThrGluGluAsnProIlePheValValSerArgGluProLeuAsnThrIleGlyLeuIleTyrGluLysIleSerLeuProLysValHisProArgTyrAspLeuAspGlyAspAlaSerMetAlaLysAlaIleThrGlyValValCysTyrAlaCysArgIleAlaSerThrLeuLeuLeuTyrGlnGluLeuMetArgLysGlyIleArgTrpLeuIleGluLeuIleLysAspAspTyrAsnGluThrValHisLysLysThrGluValValIleThrLeuAspPheCysIleArgAsnIleGluLysThrValLysValTyrGluLysLeuMetLysIleAsnLeuGluAlaAlaGluLeuGlyGluIleSerAspIleHisThrLysLeuLeuArgLeuSerSerSerGlnGlyThrIleGluThrSerLeuGlnAspIleAspSerArgLeuSerProGlyGlySerLeuAlaAspAlaTrpAlaHisGlnGluGlyThrHisProLysAspArgAsnValGluLysLeuGlnValLeuLeuAsnCysMetThrGluIleTyrTyrGlnPheLysLysAspLysAlaGluArgArgLeuAlaTyrAsnGluGluGlnIleHisLysPheAspLysGlnLysLeuTyrTyrHisAlaThrLysAlaMetThrHisPheThrAspGluCysValLysLysTyrGluAlaPheLeuAsnLysSerGluGluTrpIleArgLysMetLeuHisLeuArgLysGlnLeuLeuSerLeuThrAsnGlnCysPheAspIleGluGluGluValSerLysTyrGlnGluTyrThrAsnGluLeuGlnGluThrLeuProGlnLysMetPheThrAlaSerSerGlyIleLysHisThrMetThrProIleTyrProSerSerAsnThrLeuValGluMetThrLeuGlyMetLysLysLeuLysGluGluMetGluGlyValValLysGluLeuAlaGluAsnAsnHisIleLeuGluArgPheGlySerLeuThrMetAspGlyGlyLeuArgAsnValAspCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065885" }, { "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "C", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN011584", "geneNCBI_id": 29110, "geneSymbol": "TBK1", "hgvs": [ "XR_944524.1:n.1228C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138458" }, { "coordinates": [ { "allele": "T", "end": 1228, "referenceAllele": "C", "start": 1227 } ], "gene": "http://reg.genome.network/gene/GN011584", "geneNCBI_id": 29110, "geneSymbol": "TBK1", "hgvs": [ "XR_944525.1:n.1228C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS138459" }, { "coordinates": [ { "allele": "T", "end": 1183, "referenceAllele": "C", "start": 1182 } ], "gene": "http://reg.genome.network/gene/GN011584", "geneNCBI_id": 29110, "geneSymbol": "TBK1", "hgvs": [ "XR_001748674.2:n.1183C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596643" }, { "@id": "http://reg.genome.network/allele/PA913198746", "coordinates": [ { "allele": "T", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN011584", "geneNCBI_id": 29110, "geneSymbol": "TBK1", "hgvs": [ "NM_013254.4:c.1069C>T" ], "proteinEffect": { "hgvs": "NP_037386.1:p.Arg357Ter", "hgvsWellDefined": "NP_037386.1:p.Arg358_Leu729delinsLeuValLeuGluProGlyArgLeuAlaGlnHisPheProLysThrThrGluGluAsnProIlePheValValSerArgGluProLeuAsnThrIleGlyLeuIleTyrGluLysIleSerLeuProLysValHisProArgTyrAspLeuAspGlyAspAlaSerMetAlaLysAlaIleThrGlyValValCysTyrAlaCysArgIleAlaSerThrLeuLeuLeuTyrGlnGluLeuMetArgLysGlyIleArgTrpLeuIleGluLeuIleLysAspAspTyrAsnGluThrValHisLysLysThrGluValValIleThrLeuAspPheCysIleArgAsnIleGluLysThrValLysValTyrGluLysLeuMetLysIleAsnLeuGluAlaAlaGluLeuGlyGluIleSerAspIleHisThrLysLeuLeuArgLeuSerSerSerGlnGlyThrIleGluThrSerLeuGlnAspIleAspSerArgLeuSerProGlyGlySerLeuAlaAspAlaTrpAlaHisGlnGluGlyThrHisProLysAspArgAsnValGluLysLeuGlnValLeuLeuAsnCysMetThrGluIleTyrTyrGlnPheLysLysAspLysAlaGluArgArgLeuAlaTyrAsnGluGluGlnIleHisLysPheAspLysGlnLysLeuTyrTyrHisAlaThrLysAlaMetThrHisPheThrAspGluCysValLysLysTyrGluAlaPheLeuAsnLysSerGluGluTrpIleArgLysMetLeuHisLeuArgLysGlnLeuLeuSerLeuThrAsnGlnCysPheAspIleGluGluGluValSerLysTyrGlnGluTyrThrAsnGluLeuGlnGluThrLeuProGlnLysMetPheThrAlaSerSerGlyIleLysHisThrMetThrProIleTyrProSerSerAsnThrLeuValGluMetThrLeuGlyMetLysLysLeuLysGluGluMetGluGlyValValLysGluLeuAlaGluAsnAsnHisIleLeuGluArgPheGlySerLeuThrMetAspGlyGlyLeuArgAsnValAspCysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668083", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331710.10:c.1069C>T" }, "RefSeq": { "hgvs": "NM_013254.4:c.1069C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000329967.5:p.Arg357Ter" }, "RefSeq": { "hgvs": "NP_037386.1:p.Arg357Ter" } } } } ], "type": "nucleotide" }