{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA089331", "communityStandardTitle": [ "NM_000455.5(STK11):c.334C>T (p.Gln112Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3528680", "active": true, "id": "COSM3528680" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3528681", "active": true, "id": "COSM3528681" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1064615[alleleid]", "alleleId": 1064615, "preferredName": "NM_000455.5(STK11):c.334C>T (p.Gln112Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075653", "RCV": [ "RCV001389317" ], "variationId": 1075653 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.1218459C>T?assembly=hg19", "id": "chr19:g.1218459C>T" } ], "MyVariantInfo_hg38": [ { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247182" }, { "coordinates": [ { "allele": "T", "end": 643, "referenceAllele": "C", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585748.2:c.-39C>T" ], "proteinEffect": { "hgvs": "ENSP00000477641.1:n.-39C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS388929" }, { "coordinates": [ { "allele": "T", "end": 335, "endIntronDirection": "-", "endIntronOffset": 1912, "referenceAllele": "C", "start": 335, "startIntronDirection": "-", "startIntronOffset": 1913 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000585851.1:c.291-1913C>T" ], "proteinEffect": { "hgvs": "ENSP00000467912.1:n.291-1913C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247350" }, { "coordinates": [ { "allele": "T", "end": 1294, "referenceAllele": "C", "start": 1293 } ], "gene": 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"ENSP00000467240.2:p.Gln112_Gln432delinsLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluAlaGlyProProThrLeuProAlaArgProAlaAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247267" }, { "coordinates": [ { "allele": "T", "end": 157, "referenceAllele": "C", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000586358.5:n.157C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389344" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000589152.5:n.424C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS391283" }, { "coordinates": [ { "allele": "T", "end": 563, "referenceAllele": "C", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "ENST00000593219.5:c.*159C>T" ], "proteinEffect": { "hgvs": "ENSP00000466610.1:n.*159C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS394095" }, { "@id": "http://reg.genome.network/allele/PA2499232540", "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.4:c.334C>T", "LRG_319t1:c.334C>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Gln112Ter", "hgvsWellDefined": "NP_000446.1:p.Gln112_Gln433delinsLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlnValProGluGluGluAlaSerHisAsnGlyGlnArgArgGlyLeuProLysAlaValCysMetAsnGlyThrGluAlaAlaGlnLeuSerThrLysSerArgAlaGluGlyArgAlaProAsnProAlaArgLysAlaCysSerAlaSerSerLysIleArgArgLeuSerAlaCysLysGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006517" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259617.1:c.334C>T" ], "proteinEffect": { "hgvs": "XP_005259674.1:p.Gln112Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS062494" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XM_005259618.3:c.334C>T" ], "proteinEffect": { "hgvs": "XP_005259675.1:p.Gln112Ter", "hgvsWellDefined": "XP_005259675.1:p.Gln112_Gln404delinsLeuValAspValLeuTyrAsnGluGluLysGlnLysMetTyrMetValMetGluTyrCysValCysGlyMetGlnGluMetLeuAspSerValProGluLysArgPheProValCysGlnAlaHisGlyTyrPheCysGlnLeuIleAspGlyLeuGluTyrLeuHisSerGlnGlyIleValHisLysAspIleLysProGlyAsnLeuLeuLeuThrThrGlyGlyThrLeuLysIleSerAspLeuGlyValAlaGluAlaLeuHisProPheAlaAlaAspAspThrCysArgThrSerGlnGlySerProAlaPheGlnProProGluIleAlaAsnGlyLeuAspThrPheSerGlyPheLysValAspIleTrpSerAlaGlyValThrLeuTyrAsnIleThrThrGlyLeuTyrProPheGluGlyAspAsnIleTyrLysLeuPheGluAsnIleGlyLysGlySerTyrAlaIleProGlyAspCysGlyProProLeuSerAspLeuLeuLysGlyMetLeuGluTyrGluProAlaLysArgPheSerIleArgGlnIleArgGlnHisSerTrpPheArgLysLysHisProProAlaGluAlaProValProIleProProSerProAspThrLysAspArgTrpArgSerMetThrValValProTyrLeuGluAspLeuHisGlyAlaAspGluAspGluAspLeuPheAspIleGluAspAspIleIleTyrThrGlnAspPheThrValProGlyGlyGluGluAlaSerGluAlaGlyLeuArgAlaGluArgGlyLeuGlnLysSerGluGlySerAspLeuSerGlyGluGluAlaSerArgProAlaProGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062495" }, { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS549014" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753738.2:n.959C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600199" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753739.1:n.959C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600200" }, { "coordinates": [ { "allele": "T", "end": 959, "referenceAllele": "C", "start": 958 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.959C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA2499232540", "coordinates": [ { "allele": "T", "end": 1470, "referenceAllele": "C", "start": 1469 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.334C>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Gln112Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.334C>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.334C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Gln112Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Gln112Ter" } } } } ], "type": "nucleotide" }