{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA382422682", "communityStandardTitle": [ "NM_014679.5(CEP57):c.523C>T (p.Arg175Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6053786", "active": true, "id": "COSM6053786" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6053787", "active": true, "id": "COSM6053787" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1399945[alleleid]", "alleleId": 1399945, "preferredName": "NM_014679.5(CEP57):c.523C>T (p.Arg175Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1421218", "RCV": [ "RCV001923710" ], "variationId": 1421218 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.95550969C>T?assembly=hg19", "id": "chr11:g.95550969C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.95817805C>T?assembly=hg38", "id": "chr11:g.95817805C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/775752088", "rs": 775752088 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-95817805-C-T?dataset=gnomad_r3", "id": "11-95817805-C-T", "variant": "11:95817805 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-95817805-C-T?dataset=gnomad_r4", "id": "11-95817805-C-T", "variant": "11:95817805 C / T" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 95817805, "referenceAllele": "C", "start": 95817804 } ], "hgvs": [ "NC_000011.10:g.95817805C>T", "CM000673.2:g.95817805C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 95550969, "referenceAllele": "C", "start": 95550968 } ], "hgvs": [ "NC_000011.9:g.95550969C>T", "CM000673.1:g.95550969C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 95190617, "referenceAllele": "C", "start": 95190616 } ], "hgvs": [ "NC_000011.8:g.95190617C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 32345, "referenceAllele": "C", "start": 32344 } ], "hgvs": [ "NG_029829.1:g.32345C>T", "LRG_526:g.32345C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS004693" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000325542.10:c.523C>T" ], "proteinEffect": { "hgvs": "ENSP00000317902.5:p.Arg175Ter", "hgvsWellDefined": "ENSP00000317902.5:p.Arg175_Tyr500delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" 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"ENSP00000317487.5:p.Arg175_Tyr474delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS258499" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "C", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000537677.5:c.442C>T" ], "proteinEffect": { "hgvs": "ENSP00000441392.1:p.Arg148Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS360902" }, { "coordinates": [ { "allele": "T", "end": 563, "referenceAllele": "C", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "ENST00000538658.5:c.523C>T" ], "proteinEffect": { "hgvs": "ENSP00000445706.1:p.Arg175Ter", "hgvsWellDefined": "ENSP00000445706.1:p.Arg175_Val270delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361438" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ 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], "proteinEffect": { "hgvs": "ENSP00000438065.1:p.Arg166Ter", "hgvsWellDefined": "ENSP00000438065.1:p.Arg166_Glu198del" }, "referenceSequence": "http://reg.genome.network/refseq/RS364618" }, { "@id": "http://reg.genome.network/allele/PA2826336979", "coordinates": [ { "allele": "T", "end": 805, "referenceAllele": "C", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243776.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001230705.1:p.Arg166Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS018605" }, { "@id": "http://reg.genome.network/allele/PA2826337754", "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243777.1:c.523C>T" ], "proteinEffect": { "hgvs": "NP_001230706.1:p.Arg175Ter", "hgvsWellDefined": 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"NP_055494.2:p.Arg175_Tyr500delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033365" }, { "coordinates": [ { "allele": "T", "end": 742, "endIntronDirection": "-", "endIntronOffset": 1021, "referenceAllele": "C", "start": 742, "startIntronDirection": "-", "startIntronOffset": 1022 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718945.2:c.505-1022C>T" ], "proteinEffect": { "hgvs": "XP_006719008.1:n.505-1022C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS072859" }, { "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718946.2:c.523C>T" ], "proteinEffect": { "hgvs": "XP_006719009.1:p.Arg175Ter", "hgvsWellDefined": "XP_006719009.1:p.Arg175_Tyr438delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072860" }, { "@id": "http://reg.genome.network/allele/PA2828099653", "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001363604.1:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001350533.1:p.Arg148Ter", "hgvsWellDefined": "NP_001350533.1:p.Arg148_Tyr473delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523423" }, { "coordinates": [ { "allele": "T", "end": 732, "endIntronDirection": "-", "endIntronOffset": 1021, "referenceAllele": "C", "start": 732, "startIntronDirection": "-", "startIntronOffset": 1022 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718945.3:c.505-1022C>T" ], "proteinEffect": { "hgvs": "XP_006719008.1:n.505-1022C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS539742" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_006718946.3:c.523C>T" ], "proteinEffect": { "hgvs": "XP_006719009.1:p.Arg175Ter", "hgvsWellDefined": "XP_006719009.1:p.Arg175_Tyr438delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539743" }, { "coordinates": [ { "allele": "T", "end": 1951, "referenceAllele": "C", "start": 1950 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_017018592.1:c.496C>T" ], "proteinEffect": { "hgvs": "XP_016874081.1:p.Arg166Ter", "hgvsWellDefined": "XP_016874081.1:p.Arg166_Tyr491delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570495" }, { "coordinates": [ { "allele": "T", "end": 732, "endIntronDirection": "-", "endIntronOffset": 1021, "referenceAllele": "C", "start": 732, "startIntronDirection": "-", "startIntronOffset": 1022 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_017018593.2:c.505-1022C>T" ], "proteinEffect": { "hgvs": "XP_016874082.1:n.505-1022C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS570496" }, { "coordinates": [ { "allele": "T", "end": 732, "endIntronDirection": "-", "endIntronOffset": 1021, "referenceAllele": "C", "start": 732, "startIntronDirection": "-", "startIntronOffset": 1022 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_017018594.2:c.505-1022C>T" ], "proteinEffect": { "hgvs": "XP_016874083.1:n.505-1022C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS570497" }, { "coordinates": [ { "allele": "T", "end": 772, "endIntronDirection": "-", "endIntronOffset": 1021, "referenceAllele": "C", "start": 772, "startIntronDirection": "-", "startIntronOffset": 1022 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XM_024448779.1:c.424-1022C>T" ], "proteinEffect": { "hgvs": "XP_024304547.1:n.424-1022C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS582346" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "XR_001748050.2:n.751C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596115" }, { "@id": "http://reg.genome.network/allele/PA2573260245", "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_014679.5:c.523C>T" ], "proteinEffect": { "hgvs": "NP_055494.2:p.Arg175Ter", "hgvsWellDefined": "NP_055494.2:p.Arg175_Tyr500delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668449", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000325542.10:c.523C>T" }, "RefSeq": { "hgvs": "NM_014679.5:c.523C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000317902.5:p.Arg175Ter" }, "RefSeq": { "hgvs": "NP_055494.2:p.Arg175Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826336979", "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "C", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243776.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001230705.1:p.Arg166Ter", "hgvsWellDefined": "NP_001230705.1:p.Arg166_Tyr491delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714519" }, { "@id": "http://reg.genome.network/allele/PA2826337754", "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001243777.2:c.523C>T" ], "proteinEffect": { "hgvs": "NP_001230706.1:p.Arg175Ter", "hgvsWellDefined": "NP_001230706.1:p.Arg175_Tyr474delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714520" }, { "@id": "http://reg.genome.network/allele/PA2828099653", "coordinates": [ { "allele": "T", "end": 1037, "referenceAllele": "C", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN030794", "geneNCBI_id": 9702, "geneSymbol": "CEP57", "hgvs": [ "NM_001363604.2:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001350533.1:p.Arg148Ter", "hgvsWellDefined": "NP_001350533.1:p.Arg148_Tyr473delinsGlnHisAspGlnThrHisValGlnSerGlnLeuGluLysLeuAspLeuLeuGluGlnGluTyrAsnLysLeuThrThrMetGlnAlaLeuAlaGluLysLysMetGlnGluLeuGluAlaLysLeuHisGluGluGluGlnGluArgLysArgMetGlnAlaLysAlaAlaGluLeuGlnThrGlyLeuGluThrAsnArgLeuIlePheGluAspLysAlaThrProCysValProAsnAlaArgArgIleLysLysLysLysSerLysProProGluLysLysSerSerArgAsnTyrPheGlyAlaGlnProHisTyrArgLeuCysLeuGlyAspMetProPheValAlaGlyLysSerThrSerProSerHisAlaValValAlaAsnValGlnLeuValLeuHisLeuMetLysGlnHisSerLysAlaLeuCysAsnAspArgValIleAsnSerIleProLeuAlaLysGlnValSerSerArgGlyGlyLysSerLysLysLeuSerValThrProProSerSerAsnGlyIleAsnGluGluLeuSerGluValLeuGlnThrLeuGlnAspGluPheGlyGlnMetSerPheAspHisGlnGlnLeuAlaLysLeuIleGlnGluSerProThrValGluLeuLysAspLysLeuGluCysGluLeuGluAlaLeuValGlyArgMetGluAlaLysAlaAsnGlnIleThrLysValArgLysTyrGlnAlaGlnLeuGluLysGlnLysLeuGluLysGlnLysLysGluLeuLysAlaThrLysLysThrLeuAspGluGluArgAsnSerSerSerArgSerGlyIleThrGlyThrThrAsnLysLysAspPheMetLysLeuArgProGlyGluLysArgArgLysAsnLeuGlnLeuLeuLysAspMetGlnSerIleGlnAsnSerLeuGlnSerSerSerLeuCysTrpAspTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720762" } ], "type": "nucleotide" }