{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397992813", "communityStandardTitle": [ "NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1927170[alleleid]", "alleleId": 1927170, "preferredName": "NM_025099.6(CTC1):c.495C>A (p.Tyr165Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2197589", "RCV": [ "RCV002637813" ], "variationId": 2197589 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8141501G>T?assembly=hg19", "id": "chr17:g.8141501G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.8238183G>T?assembly=hg38", "id": "chr17:g.8238183G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2507947953", "rs": 2507947953 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 8238183, "referenceAllele": "G", "start": 8238182 } ], "hgvs": [ "NC_000017.11:g.8238183G>T", "CM000679.2:g.8238183G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 8141501, "referenceAllele": "G", "start": 8141500 } ], "hgvs": [ "NC_000017.10:g.8141501G>T", "CM000679.1:g.8141501G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 8082226, "referenceAllele": "G", "start": 8082225 } ], "hgvs": [ "NC_000017.9:g.8082226G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 14913, "referenceAllele": "C", "start": 14912 } ], "hgvs": [ "NG_032148.1:g.14913C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005144" }, { "coordinates": [ { "allele": "A", "end": 14913, "referenceAllele": "C", "start": 14912 } ], "hgvs": [ "NG_032148.2:g.14913C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616334" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000580299.2:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000462607.2:p.Tyr165Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS906027" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581729.2:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000462720.2:p.Tyr165Ter", "hgvsWellDefined": "ENSP00000462720.2:p.Tyr165_Cys1140delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906034" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581967.2:n.517C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS906036" }, { "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699849.1:c.-403C>A" ], "proteinEffect": { "hgvs": "ENSP00000514647.1:n.-403C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910721" }, { "coordinates": [ { "allele": "A", "end": 55, "endIntronDirection": "-", "endIntronOffset": 1840, "referenceAllele": "C", "start": 55, "startIntronDirection": "-", "startIntronOffset": 1841 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699850.1:n.56-1841C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910722" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699851.1:n.517C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910723" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699852.1:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000514648.1:p.Tyr165Ter", "hgvsWellDefined": "ENSP00000514648.1:p.Tyr165_Gly615delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnArgTrpGlyLeuThrMetLeuProGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910724" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699853.1:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000514649.1:p.Tyr165Ter", "hgvsWellDefined": "ENSP00000514649.1:p.Tyr165_Pro1082delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleSerLeuGlnProGlyLeuThrSerProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910725" }, { "coordinates": [ { "allele": "A", "end": 288, "referenceAllele": "C", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699854.1:n.288C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910726" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699855.1:n.517C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910727" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699856.1:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000514650.1:p.Tyr165Ter", "hgvsWellDefined": "ENSP00000514650.1:p.Tyr165_Ser979delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910728" }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699857.1:n.503C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910729" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699858.1:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000514651.1:p.Tyr165Ter", "hgvsWellDefined": "ENSP00000514651.1:p.Tyr165_Ser410delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgSerArgMetPheThrCysSerSerGlnTrpGluGlyGlyGlnGluGlyGlnCysSerProProAlaSerValAlaProPheCysPheLysAlaSerLeuValArgSerLeuGlyLeuThrHisProValLysProThrGlyProProCysThrSerSerTrpCysGlyAsnValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910730" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699859.1:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000514652.1:p.Tyr165Ter", "hgvsWellDefined": "ENSP00000514652.1:p.Tyr165_Leu1023delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910731" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699861.1:n.517C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910733" }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "C", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000699862.1:n.382C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910734" }, { "coordinates": [ { "allele": "A", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.7:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Tyr165Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Tyr165_Leu1031delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756234" }, { "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.2:n.336C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760910" }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000643543.1:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000494323.1:p.Tyr165Ter", "hgvsWellDefined": "ENSP00000494323.1:p.Tyr165_Ser410delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgSerArgMetPheThrCysSerSerGlnTrpGluGlyGlyGlnGluGlyGlnCysSerProProAlaSerValAlaProPheCysPheLysAlaSerLeuValArgSerLeuGlyLeuThrHisProValLysProThrGlyProProCysThrSerSerTrpCysGlyAsnValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767338" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000651323.1:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000498499.1:p.Tyr165Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS771599", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.495C>A" }, "RefSeq": { "hgvs": "NM_025099.6:c.495C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Tyr165Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Tyr165Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000315684.12:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000313759.8:p.Tyr165Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS257118" }, { "coordinates": [ { "allele": "A", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000449476.6:c.495C>A" ], "proteinEffect": { "hgvs": "ENSP00000396018.2:p.Tyr165Ter", "hgvsWellDefined": "ENSP00000396018.2:p.Tyr165_Leu1031delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS300236" }, { "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "C", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "ENST00000581671.1:n.336C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS386900" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.5:c.495C>A" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Tyr165Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS038199" }, { "coordinates": [ { "allele": "A", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NR_046431.1:n.554C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS051686" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.2:c.495C>A" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Tyr165Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS074141" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.2:c.495C>A" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Tyr165Ter", "hgvsWellDefined": "XP_006721641.1:p.Tyr165_Cys1140delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074142" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721579.2:c.495C>A" ], "proteinEffect": { "hgvs": "XP_006721642.1:p.Tyr165Ter", "hgvsWellDefined": "XP_006721642.1:p.Tyr165_Ser979delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074143" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524010.1:c.495C>A" ], "proteinEffect": { "hgvs": "XP_011522312.1:p.Tyr165Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS091141" }, { "coordinates": [ { "allele": "A", "end": 451, "endIntronDirection": "+", "endIntronOffset": 209, "referenceAllele": "C", "start": 451, "startIntronDirection": "+", "startIntronOffset": 208 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_011524011.1:c.-255+209C>A" ], "proteinEffect": { "hgvs": "XP_011522313.1:n.-255+209C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS091142" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429823.2:n.538C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118501" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429824.2:n.538C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118502" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XR_429825.1:n.538C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118503" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "C", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "NM_025099.6:c.495C>A" ], "proteinEffect": { "hgvs": "NP_079375.3:p.Tyr165Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS526212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000651323.1:c.495C>A" }, "RefSeq": { "hgvs": "NM_025099.6:c.495C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498499.1:p.Tyr165Ter" }, "RefSeq": { "hgvs": "NP_079375.3:p.Tyr165Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721577.3:c.495C>A" ], "proteinEffect": { "hgvs": "XP_006721640.1:p.Tyr165Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS540328" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN026169", "geneNCBI_id": 80169, "geneSymbol": "CTC1", "hgvs": [ "XM_006721578.3:c.495C>A" ], "proteinEffect": { "hgvs": "XP_006721641.1:p.Tyr165Ter", "hgvsWellDefined": "XP_006721641.1:p.Tyr165_Cys1140delinsLeuProProAlaArgTrpAsnSerSerGlyGluGlyHisLeuGluLeuTrpAspAlaProValProValPheProLeuThrIleSerProGlyProValThrProIleProValLeuTyrProGluSerAlaSerCysLeuLeuArgLeuArgAsnLysLeuArgGlyValGlnArgAsnLeuAlaGlySerLeuValArgLeuSerAlaLeuValLysSerLysGlnLysAlaTyrPheIleLeuSerLeuGlyArgSerHisProAlaValThrHisValSerIleIleValGlnValProAlaGlnLeuValTrpHisArgAlaLeuArgProGlyThrAlaTyrValLeuThrGluLeuArgValSerLysIleArgGlyGlnArgGlnHisValTrpMetThrSerGlnSerSerArgLeuLeuLeuLeuLysProGluCysValGlnGluLeuGluLeuGluLeuGluGlyProLeuLeuGluAlaAspProLysProLeuProMetProSerAsnSerGluAspLysLysAspProGluSerLeuValArgTyrSerArgLeuLeuSerTyrSerGlyAlaValThrGlyValLeuAsnGluProAlaGlyLeuTyrGluLeuAspGlyGlnLeuGlyLeuCysLeuAlaTyrGlnGlnPheArgGlyLeuArgArgValMetArgProGlyValCysLeuGlnLeuGlnAspValHisLeuLeuGlnSerValGlyGlyGlyThrArgArgProValLeuAlaProCysLeuArgGlyAlaValLeuLeuGlnSerPheSerArgGlnLysProGlyAlaHisSerSerArgGlnAlaTyrGlyAlaSerLeuTyrGluGlnLeuValTrpGluArgGlnLeuGlyLeuProLeuTyrLeuTrpAlaThrLysAlaLeuGluGluLeuAlaCysLysLeuCysProHisValLeuArgHisHisGlnPheLeuGlnHisSerSerProGlySerProSerLeuGlyLeuGlnLeuLeuAlaProThrLeuAspLeuLeuAlaProProGlySerProValArgAsnAlaHisAsnGluIleLeuGluGluProHisHisCysProLeuGlnLysTyrThrArgLeuGlnThrProSerSerPheProThrLeuAlaThrLeuLysGluGluGlyGlnArgLysAlaTrpAlaSerPheAspProLysAlaLeuLeuProLeuProGluAlaSerTyrLeuProSerCysGlnLeuAsnArgArgLeuAlaTrpSerTrpLeuCysLeuLeuProSerAlaPheCysProAlaGlnValLeuLeuGlyValLeuValAlaSerSerHisLysGlyCysLeuGlnLeuArgAspGlnSerGlySerLeuProCysLeuLeuLeuAlaLysHisSerGlnProLeuSerAspProArgLeuIleGlyCysLeuValArgAlaGluArgPheGlnLeuIleValGluArgAspValArgSerSerPheProSerTrpLysGluLeuSerMetProGlyPheIleGlnLysGlnGlnAlaArgValTyrValGlnPhePheLeuAlaAspAlaLeuIleLeuProValProArgProCysLeuHisSerAlaThrProSerThrProGlnThrAspProThrGlyProGluGlyProHisLeuGlyGlnSerArgLeuPheLeuLeuCysHisLysGluAlaLeuMetLysArgAsnPheCysValProProGlyAlaSerProGluValProLysProAlaLeuSerPheTyrValLeuGlySerTrpLeuGlyGlyThrGlnArgLysGluGlyThrGlyTrpGlyLeuProGluProGlnGlyAsnAspAspAsnAspGlnLysValHisLeuIlePhePheGlySerSerValArgTrpPheGluPheLeuHisProGlyGlnValTyrArgLeuIleAlaProGlyProAlaThrProMetLeuPheGluLysAspGlySerSerCysIleSerArgArgProLeuGluLeuAlaGlyCysAlaSerCysLeuThrValGlnAspAsnTrpThrLeuGluLeuGluSerSerGlnAspIleGlnAspValLeuAspAlaAsnLysSerLeuProGluSerSerLeuThrAspLeuLeuSerAspAsnPheThrAspSerLeuValSerPheSerAlaGluIleLeuSerArgThrLeuCysGluProLeuValAlaSerLeuTrpMetLysLeuGlyAsnThrGlyAlaMetArgArgCysValLysLeuThrValAlaLeuGluThrAlaGluCysGluPheProProHisLeuAspValTyrIleGluAspProHisLeuProProSerLeuGlyLeuLeuProGlyAlaArgValHisPheSerGlnLeuGluLysArgValSerArgSerHisAsnValTyrCysCysPheArgSerSerThrTyrValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer" 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