{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367401243", "communityStandardTitle": [ "NM_000162.5(GCK):c.645C>A (p.Tyr215Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=444135[alleleid]", "alleleId": 444135, "preferredName": "NM_000162.5(GCK):c.645C>A (p.Tyr215Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453007", "RCV": [ "RCV000523346", "RCV000826165" ], "variationId": 453007 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.44189393G>T?assembly=hg19", "id": "chr7:g.44189393G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.44149794G>T?assembly=hg38", "id": "chr7:g.44149794G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/144723656", "rs": 144723656 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-44149794-G-T?dataset=gnomad_r4", "id": "7-44149794-G-T", "variant": "7:44149794 G / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 44149794, "referenceAllele": "G", "start": 44149793 } ], "hgvs": [ "NC_000007.14:g.44149794G>T", "CM000669.2:g.44149794G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 44189393, "referenceAllele": "G", "start": 44189392 } ], "hgvs": [ "NC_000007.13:g.44189393G>T", "CM000669.1:g.44189393G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 44155918, "referenceAllele": "G", "start": 44155917 } ], "hgvs": [ "NC_000007.12:g.44155918G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 44630, "referenceAllele": "C", "start": 44629 } ], "hgvs": [ "NG_008847.1:g.44630C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001243" }, { "coordinates": [ { "allele": "A", "end": 53377, "referenceAllele": "C", "start": 53376 } ], "hgvs": [ "NG_008847.2:g.53377C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616115" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000395796.8:c.*643C>A" ], "proteinEffect": { "hgvs": "ENSP00000379142.4:n.*643C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS824497" }, { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000616242.5:c.645C>A" ], "proteinEffect": { "hgvs": "ENSP00000482149.2:p.Tyr215Ter", "hgvsWellDefined": 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"ENSP00000223366.2:p.Tyr216_Gln466delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748288" }, { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000403799.8:c.645C>A" ], "proteinEffect": { "hgvs": "ENSP00000384247.3:p.Tyr215Ter", "hgvsWellDefined": "ENSP00000384247.3:p.Tyr215_Gln465delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754065", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.645C>A" }, "RefSeq": { "hgvs": "NM_000162.5:c.645C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Tyr215Ter" }, "RefSeq": { "hgvs": "NP_000153.1:p.Tyr215Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000671824.1:c.645C>A" ], "proteinEffect": { "hgvs": "ENSP00000500264.1:p.Tyr215Ter", "hgvsWellDefined": "ENSP00000500264.1:p.Tyr215_Gln486delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyAspArgAlaCysArgGlyGlySerGluThrProProAlaArgPheLeuGlyLeuThrGlnHisSerProLysTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773179" }, { "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000673284.1:c.645C>A" ], "proteinEffect": { "hgvs": "ENSP00000499852.1:p.Tyr215Ter", "hgvsWellDefined": "ENSP00000499852.1:p.Tyr215_Ala456delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS773641" }, { "coordinates": [ { "allele": "A", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000345378.6:c.648C>A" ], "proteinEffect": { "hgvs": "ENSP00000223366.2:p.Tyr216Ter", "hgvsWellDefined": "ENSP00000223366.2:p.Tyr216_Gln466delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262162" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000395796.7:c.642C>A" ], "proteinEffect": { "hgvs": "ENSP00000379142.3:p.Tyr214Ter", "hgvsWellDefined": "ENSP00000379142.3:p.Tyr214_Gln464delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276910" }, { "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000403799.7:c.645C>A" ], "proteinEffect": { "hgvs": "ENSP00000384247.3:p.Tyr215Ter", "hgvsWellDefined": "ENSP00000384247.3:p.Tyr215_Gln465delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS279907" }, { "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "C", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000437084.1:c.594C>A" ], "proteinEffect": { "hgvs": "ENSP00000402840.1:p.Tyr198Ter", "hgvsWellDefined": "ENSP00000402840.1:p.Tyr198_Gln448delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294291" }, { "coordinates": [ { "allele": "A", "end": 642, "referenceAllele": "C", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "ENST00000616242.4:c.642C>A" ], "proteinEffect": { "hgvs": "ENSP00000482149.1:p.Tyr214Ter", "hgvsWellDefined": "ENSP00000482149.1:p.Tyr214_Gln464delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS402978" }, { "@id": "http://reg.genome.network/allele/PA213819", "coordinates": [ { "allele": "A", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.3:c.645C>A" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Tyr215Ter", "hgvsWellDefined": "NP_000153.1:p.Tyr215_Gln465delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006224" }, { "@id": "http://reg.genome.network/allele/PA645460220", "coordinates": [ { "allele": "A", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.1:c.648C>A" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Tyr216Ter", "hgvsWellDefined": "NP_277042.1:p.Tyr216_Gln466delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039778" }, { "@id": "http://reg.genome.network/allele/PA2830123415", "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "C", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.1:c.642C>A" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Tyr214Ter", "hgvsWellDefined": "NP_277043.1:p.Tyr214_Gln464delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039779" }, { "@id": "http://reg.genome.network/allele/PA213819", "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.4:c.645C>A" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Tyr215Ter", "hgvsWellDefined": "NP_000153.1:p.Tyr215_Gln465delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510757" }, { "@id": "http://reg.genome.network/allele/PA2827936682", "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_001354800.1:c.645C>A" ], "proteinEffect": { "hgvs": "NP_001341729.1:p.Tyr215Ter", "hgvsWellDefined": "NP_001341729.1:p.Tyr215_Ala456delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522689" }, { "@id": "http://reg.genome.network/allele/PA645460220", "coordinates": [ { "allele": "A", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.2:c.648C>A" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Tyr216Ter", "hgvsWellDefined": "NP_277042.1:p.Tyr216_Gln466delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526401" }, { "@id": "http://reg.genome.network/allele/PA2830123415", "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.2:c.642C>A" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Tyr214Ter", "hgvsWellDefined": "NP_277043.1:p.Tyr214_Gln464delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526402" }, { "@id": "http://reg.genome.network/allele/PA213819", "coordinates": [ { "allele": "A", "end": 1131, "referenceAllele": "C", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_000162.5:c.645C>A" ], "proteinEffect": { "hgvs": "NP_000153.1:p.Tyr215Ter", "hgvsWellDefined": "NP_000153.1:p.Tyr215_Gln465delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000403799.8:c.645C>A" }, "RefSeq": { "hgvs": "NM_000162.5:c.645C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000384247.3:p.Tyr215Ter" }, "RefSeq": { "hgvs": "NP_000153.1:p.Tyr215Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645460220", "coordinates": [ { "allele": "A", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033507.3:c.648C>A" ], "proteinEffect": { "hgvs": "NP_277042.1:p.Tyr216Ter", "hgvsWellDefined": "NP_277042.1:p.Tyr216_Gln466delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699364" }, { "@id": "http://reg.genome.network/allele/PA2830123415", "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "C", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN004195", "geneNCBI_id": 2645, "geneSymbol": "GCK", "hgvs": [ "NM_033508.3:c.642C>A" ], "proteinEffect": { "hgvs": "NP_277043.1:p.Tyr214Ter", "hgvsWellDefined": "NP_277043.1:p.Tyr214_Gln464delinsGluAspHisGlnCysGluValGlyMetIleValGlyThrGlyCysAsnAlaCysTyrMetGluGluMetGlnAsnValGluLeuValGluGlyAspGluGlyArgMetCysValAsnThrGluTrpGlyAlaPheGlyAspSerGlyGluLeuAspGluPheLeuLeuGluTyrAspArgLeuValAspGluSerSerAlaAsnProGlyGlnGlnLeuTyrGluLysLeuIleGlyGlyLysTyrMetGlyGluLeuValArgLeuValLeuLeuArgLeuValAspGluAsnLeuLeuPheHisGlyGluAlaSerGluGlnLeuArgThrArgGlyAlaPheGluThrArgPheValSerGlnValGluSerAspThrGlyAspArgLysGlnIleTyrAsnIleLeuSerThrLeuGlyLeuArgProSerThrThrAspCysAspIleValArgArgAlaCysGluSerValSerThrArgAlaAlaHisMetCysSerAlaGlyLeuAlaGlyValIleAsnArgMetArgGluSerArgSerGluAspValMetArgIleThrValGlyValAspGlySerValTyrLysLeuHisProSerPheLysGluArgPheHisAlaSerValArgArgLeuThrProSerCysGluIleThrPheIleGluSerGluGluGlySerGlyArgGlyAlaAlaLeuValSerAlaValAlaCysLysLysAlaCysMetLeuGlyGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699365" } ], "type": "nucleotide" }