{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351540028", "communityStandardTitle": [ "NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835492[alleleid]", "alleleId": 2835492, "preferredName": "NM_004628.5(XPC):c.1593G>A (p.Trp531Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2679644", "RCV": [ "RCV003464895" ], "variationId": 2679644 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14199790C>T?assembly=hg19", "id": "chr3:g.14199790C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14158290C>T?assembly=hg38", "id": "chr3:g.14158290C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2470257940", "rs": 2470257940 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-14158290-C-T?dataset=gnomad_r4", "id": "3-14158290-C-T", "variant": "3:14158290 C / T" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 14158290, "referenceAllele": "C", "start": 14158289 } ], "hgvs": [ "NC_000003.12:g.14158290C>T", "CM000665.2:g.14158290C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 14199790, "referenceAllele": "C", "start": 14199789 } ], "hgvs": [ "NC_000003.11:g.14199790C>T", "CM000665.1:g.14199790C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 14174792, "referenceAllele": "C", "start": 14174791 } ], "hgvs": [ "NC_000003.10:g.14174792C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 25383, "referenceAllele": "G", "start": 25382 } ], "hgvs": [ "NG_011763.1:g.25383G>A", "LRG_472:g.25383G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001956" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.12:c.1593G>A" ], "proteinEffect": { "hgvs": "ENSP00000285021.8:p.Trp531Ter", "hgvsWellDefined": "ENSP00000285021.8:p.Trp531_Leu940delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743792", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.1593G>A" }, "RefSeq": { "hgvs": "NM_004628.5:c.1593G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Trp531Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Trp531Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1808, "referenceAllele": "G", "start": 1807 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.11:c.1593G>A" ], "proteinEffect": { "hgvs": "ENSP00000285021.7:p.Trp531Ter", "hgvsWellDefined": "ENSP00000285021.7:p.Trp531_Leu940delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253275" }, { "coordinates": [ { "allele": "A", "end": 1502, "referenceAllele": "G", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000476581.6:c.*1046G>A" ], "proteinEffect": { "hgvs": "ENSP00000424548.1:n.*1046G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS317599" }, { "@id": "http://reg.genome.network/allele/PA2741916116", "coordinates": [ { "allele": "A", "end": 1697, "referenceAllele": "G", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.4:c.1593G>A", "LRG_472t1:c.1593G>A" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Trp531Ter", "hgvsWellDefined": "NP_004619.3:p.Trp531_Leu940delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029783" }, { "coordinates": [ { "allele": "A", "end": 1573, "referenceAllele": "G", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_027299.1:n.1573G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS047665" }, { "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "G", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534092.1:c.1593G>A" ], "proteinEffect": { "hgvs": "XP_011532394.1:p.Trp531Ter", "hgvsWellDefined": "XP_011532394.1:p.Trp531_Leu851delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluAlaAlaSerValCysSerGlnAlaLeuProSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101110" }, { "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "G", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534093.1:c.1593G>A" ], "proteinEffect": { "hgvs": "XP_011532395.1:p.Trp531Ter", "hgvsWellDefined": "XP_011532395.1:p.Trp531_Pro689delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgLysMetSerArgCysCysLeuProValAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101111" }, { "@id": "http://reg.genome.network/allele/PA2827927193", "coordinates": [ { "allele": "A", "end": 1573, "referenceAllele": "G", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.1:c.1014G>A" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Trp338Ter", "hgvsWellDefined": "NP_001341655.1:p.Trp338_Leu747delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522642" }, { "@id": "http://reg.genome.network/allele/PA2827927760", "coordinates": [ { "allele": "A", "end": 1697, "referenceAllele": "G", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.1:c.1593G>A" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Trp531Ter", "hgvsWellDefined": "NP_001341656.1:p.Trp531_Leu938delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522643" }, { "@id": "http://reg.genome.network/allele/PA2827928275", "coordinates": [ { "allele": "A", "end": 1679, "referenceAllele": "G", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.1:c.1575G>A" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Trp525Ter", "hgvsWellDefined": "NP_001341658.1:p.Trp525_Leu934delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522644" }, { "@id": "http://reg.genome.network/allele/PA2827928842", "coordinates": [ { "allele": "A", "end": 1697, "referenceAllele": "G", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.1:c.1593G>A" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Trp531Ter", "hgvsWellDefined": "NP_001341659.1:p.Trp531_Leu858delinsLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522645" }, { "coordinates": [ { "allele": "A", "end": 1697, "referenceAllele": "G", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.1:n.1697G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531398" }, { "coordinates": [ { "allele": "A", "end": 1573, "referenceAllele": "G", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.1:n.1573G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531399" }, { "coordinates": [ { "allele": "A", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_001740256.2:n.1626G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS590467" }, { "coordinates": [ { "allele": "A", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959580.1:n.1626G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605512" }, { "coordinates": [ { "allele": "A", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959581.1:n.1626G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS605513" }, { "@id": "http://reg.genome.network/allele/PA2827927760", "coordinates": [ { "allele": "A", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.2:c.1593G>A" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Trp531Ter", "hgvsWellDefined": "NP_001341656.1:p.Trp531_Leu938delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690308" }, { "@id": "http://reg.genome.network/allele/PA2741916116", "coordinates": [ { "allele": "A", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.5:c.1593G>A" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Trp531Ter", "hgvsWellDefined": "NP_004619.3:p.Trp531_Leu940delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.1593G>A" }, "RefSeq": { "hgvs": "NM_004628.5:c.1593G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Trp531Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Trp531Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.2:n.1626G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704894" }, { "coordinates": [ { "allele": "A", "end": 1502, "referenceAllele": "G", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.2:n.1502G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704895" }, { "@id": "http://reg.genome.network/allele/PA2827927193", "coordinates": [ { "allele": "A", "end": 1502, "referenceAllele": "G", "start": 1501 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.2:c.1014G>A" ], "proteinEffect": { "hgvs": "NP_001341655.1:p.Trp338Ter", "hgvsWellDefined": "NP_001341655.1:p.Trp338_Leu747delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720554" }, { "@id": "http://reg.genome.network/allele/PA2827928275", "coordinates": [ { "allele": "A", "end": 1608, "referenceAllele": "G", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.2:c.1575G>A" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Trp525Ter", "hgvsWellDefined": "NP_001341658.1:p.Trp525_Leu934delinsLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720555" }, { "@id": "http://reg.genome.network/allele/PA2827928842", "coordinates": [ { "allele": "A", "end": 1626, "referenceAllele": "G", "start": 1625 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.2:c.1593G>A" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Trp531Ter", "hgvsWellDefined": "NP_001341659.1:p.Trp531_Leu858delinsLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720556" } ], "type": "nucleotide" }