{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367401189", "communityStandardTitle": [ "NM_000162.5(GCK):c.660C>A (p.Cys220Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6318219", "active": true, "id": "COSM6318219" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6318220", "active": true, "id": "COSM6318220" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6318221", "active": true, "id": "COSM6318221" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1162055[alleleid]", "alleleId": 1162055, "preferredName": "NM_000162.5(GCK):c.660C>A (p.Cys220Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1172896", "RCV": [ "RCV001527032", "RCV001658238", "RCV002368554", "RCV002488347", "RCV003399324" ], "variationId": 1172896 } ], "MyVariantInfo_hg19": [ { "@id": 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"http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.1:c.657C>A" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Cys219Ter", "hgvsWellDefined": "NP_277043.1:p.Cys219_Gln464delinsGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039779" }, { "@id": "http://reg.genome.network/allele/PA2579980864", "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.4:c.660C>A" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Cys220Ter", "hgvsWellDefined": "NP_000153.1:p.Cys220_Gln465delinsGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510757" }, { "@id": "http://reg.genome.network/allele/PA2827936688", "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_001354800.1:c.660C>A" ], "proteinEffect": { "hgvs": "NP_001341729.1:p.Cys220Ter", "hgvsWellDefined": "NP_001341729.1:p.Cys220_Ala456delinsGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522689" }, { "@id": "http://reg.genome.network/allele/PA2499295141", "coordinates": [ { "allele": "A", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.2:c.663C>A" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Cys221Ter", "hgvsWellDefined": "NP_277042.1:p.Cys221_Gln466delinsGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526401" }, { "@id": "http://reg.genome.network/allele/PA2830123422", "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.2:c.657C>A" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Cys219Ter", "hgvsWellDefined": "NP_277043.1:p.Cys219_Gln464delinsGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526402" }, { "@id": "http://reg.genome.network/allele/PA2579980864", "coordinates": [ { "allele": "A", "end": 1146, "referenceAllele": "C", "start": 1145 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.5:c.660C>A" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Cys220Ter", "hgvsWellDefined": "NP_000153.1:p.Cys220_Gln465delinsGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.660C>A" }, "RefSeq": { "hgvs": "NM_000162.5:c.660C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Cys220Ter" }, "RefSeq": { "hgvs": "NP_000153.1:p.Cys220Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499295141", "coordinates": [ { "allele": "A", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.3:c.663C>A" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Cys221Ter", "hgvsWellDefined": "NP_277042.1:p.Cys221_Gln466delinsGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699364" }, { "@id": "http://reg.genome.network/allele/PA2830123422", "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.3:c.657C>A" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Cys219Ter", "hgvsWellDefined": "NP_277043.1:p.Cys219_Gln464delinsGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699365" } ], "type": "nucleotide" }