{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA351542488", "communityStandardTitle": [ "NM_004628.5(XPC):c.514C>T (p.Gln172Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2974330[alleleid]", "alleleId": 2974330, "preferredName": "NM_004628.5(XPC):c.514C>T (p.Gln172Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2805968", "RCV": [ "RCV003679492" ], "variationId": 2805968 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14209779G>A?assembly=hg19", "id": "chr3:g.14209779G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.14168279G>A?assembly=hg38", "id": "chr3:g.14168279G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/778940656", "rs": 778940656 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-14168279-G-A?dataset=gnomad_r4", "id": "3-14168279-G-A", "variant": "3:14168279 G / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14168279, "referenceAllele": "G", "start": 14168278 } ], "hgvs": [ "NC_000003.12:g.14168279G>A", "CM000665.2:g.14168279G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14209779, "referenceAllele": "G", "start": 14209778 } ], "hgvs": [ "NC_000003.11:g.14209779G>A", "CM000665.1:g.14209779G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 14184783, "referenceAllele": "G", "start": 14184782 } ], "hgvs": [ "NC_000003.10:g.14184783G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 15394, "referenceAllele": "C", "start": 15393 } ], "hgvs": [ "NG_011763.1:g.15394C>T", "LRG_472:g.15394C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001956" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.12:c.514C>T" ], "proteinEffect": { "hgvs": "ENSP00000285021.8:p.Gln172Ter", "hgvsWellDefined": "ENSP00000285021.8:p.Gln172_Leu940delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743792", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.514C>T" }, "RefSeq": { "hgvs": "NM_004628.5:c.514C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Gln172Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Gln172Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000285021.11:c.514C>T" ], "proteinEffect": { "hgvs": "ENSP00000285021.7:p.Gln172Ter", "hgvsWellDefined": "ENSP00000285021.7:p.Gln172_Leu940delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253275" }, { "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "C", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000452172.1:n.279C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS301505" }, { "coordinates": [ { "allele": "T", "end": 125, "referenceAllele": "C", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000455144.6:n.125C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS302903" }, { "coordinates": [ { "allele": "T", "end": 445, "endIntronDirection": "-", "endIntronOffset": 1025, "referenceAllele": "C", "start": 445, "startIntronDirection": "-", "startIntronOffset": 1026 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000476581.6:c.413-1026C>T" ], "proteinEffect": { "hgvs": "ENSP00000424548.1:n.413-1026C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS317599" }, { "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "ENST00000511155.1:c.496C>T" ], "proteinEffect": { "hgvs": "ENSP00000423867.1:p.Gln166Ter", "hgvsWellDefined": "ENSP00000423867.1:p.Gln166_Lys168del" }, "referenceSequence": "http://reg.genome.network/refseq/RS341488" }, { "@id": "http://reg.genome.network/allele/PA2741916077", "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.4:c.514C>T", "LRG_472t1:c.514C>T" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Gln172Ter", "hgvsWellDefined": "NP_004619.3:p.Gln172_Leu940delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029783" }, { "coordinates": [ { "allele": "T", "end": 516, "endIntronDirection": "-", "endIntronOffset": 1025, "referenceAllele": "C", "start": 516, "startIntronDirection": "-", "startIntronOffset": 1026 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_027299.1:n.517-1026C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047665" }, { "coordinates": [ { "allele": "T", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534092.1:c.514C>T" ], "proteinEffect": { "hgvs": "XP_011532394.1:p.Gln172Ter", "hgvsWellDefined": "XP_011532394.1:p.Gln172_Leu851delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluAlaAlaSerValCysSerGlnAlaLeuProSerProLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101110" }, { "coordinates": [ { "allele": "T", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XM_011534093.1:c.514C>T" ], "proteinEffect": { "hgvs": "XP_011532395.1:p.Gln172Ter", "hgvsWellDefined": "XP_011532395.1:p.Gln172_Pro689delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgLysMetSerArgCysCysLeuProValAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS101111" }, { "coordinates": [ { "allele": "T", "end": 516, "endIntronDirection": "-", "endIntronOffset": 1025, "referenceAllele": "C", "start": 516, "startIntronDirection": "-", "startIntronOffset": 1026 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.1:c.-43-1026C>T" ], "proteinEffect": { "hgvs": "NP_001341655.1:n.-43-1026C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522642" }, { "@id": "http://reg.genome.network/allele/PA2827927552", "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.1:c.514C>T" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Gln172Ter", "hgvsWellDefined": "NP_001341656.1:p.Gln172_Leu938delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522643" }, { "@id": "http://reg.genome.network/allele/PA2827928066", "coordinates": [ { "allele": "T", "end": 600, "referenceAllele": "C", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.1:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341658.1:p.Gln166_Leu934delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522644" }, { "@id": "http://reg.genome.network/allele/PA2827928633", "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.1:c.514C>T" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Gln172Ter", "hgvsWellDefined": "NP_001341659.1:p.Gln172_Leu858delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522645" }, { "coordinates": [ { "allele": "T", "end": 618, "referenceAllele": "C", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.1:n.618C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531398" }, { "coordinates": [ { "allele": "T", "end": 516, "endIntronDirection": "-", "endIntronOffset": 1025, "referenceAllele": "C", "start": 516, "startIntronDirection": "-", "startIntronOffset": 1026 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.1:n.517-1026C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531399" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_001740256.2:n.547C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS590467" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959580.1:n.547C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605512" }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "XR_002959581.1:n.547C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605513" }, { "@id": "http://reg.genome.network/allele/PA2827927552", "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354727.2:c.514C>T" ], "proteinEffect": { "hgvs": "NP_001341656.1:p.Gln172Ter", "hgvsWellDefined": "NP_001341656.1:p.Gln172_Leu938delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluGluAspValGlnMetLeuProThrCysGlnProLeuArgProLeuPheTyrProLeuLeuSerGluAspHisAspHisAspIleIleThrProLeuGlySerGlnArgCysSerAlaProSerGlySerMetSerGlyAlaLeuSerSerGlyArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690308" }, { "@id": "http://reg.genome.network/allele/PA2741916077", "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_004628.5:c.514C>T" ], "proteinEffect": { "hgvs": "NP_004619.3:p.Gln172Ter", "hgvsWellDefined": "NP_004619.3:p.Gln172_Leu940delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696195", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000285021.12:c.514C>T" }, "RefSeq": { "hgvs": "NM_004628.5:c.514C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000285021.8:p.Gln172Ter" }, "RefSeq": { "hgvs": "NP_004619.3:p.Gln172Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148950.2:n.547C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704894" }, { "coordinates": [ { "allele": "T", "end": 445, "endIntronDirection": "-", "endIntronOffset": 1025, "referenceAllele": "C", "start": 445, "startIntronDirection": "-", "startIntronOffset": 1026 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NR_148951.2:n.446-1026C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704895" }, { "coordinates": [ { "allele": "T", "end": 445, "endIntronDirection": "-", "endIntronOffset": 1025, "referenceAllele": "C", "start": 445, "startIntronDirection": "-", "startIntronOffset": 1026 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354726.2:c.-43-1026C>T" ], "proteinEffect": { "hgvs": "NP_001341655.1:n.-43-1026C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS720554" }, { "@id": "http://reg.genome.network/allele/PA2827928066", "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "C", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354729.2:c.496C>T" ], "proteinEffect": { "hgvs": "NP_001341658.1:p.Gln166Ter", "hgvsWellDefined": "NP_001341658.1:p.Gln166_Leu934delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpValCysValAspCysValHisGlyValValGlyGlnProLeuThrCysTyrLysTyrAlaThrLysProMetThrTyrValValGlyIleAspSerAspGlyTrpValArgAspValThrGlnArgTyrAspProValTrpMetThrValThrArgLysCysArgValAspAlaGluTrpTrpAlaGluThrLeuArgProTyrGlnSerProPheMetAspArgGluLysLysGluAspLeuGluPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720555" }, { "@id": "http://reg.genome.network/allele/PA2827928633", "coordinates": [ { "allele": "T", "end": 547, "referenceAllele": "C", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN012816", "geneNCBI_id": 7508, "geneSymbol": "XPC", "hgvs": [ "NM_001354730.2:c.514C>T" ], "proteinEffect": { "hgvs": "NP_001341659.1:p.Gln172Ter", "hgvsWellDefined": "NP_001341659.1:p.Gln172_Leu858delinsAlaLysThrArgGluArgSerGluLysIleLysLeuGluPheGluThrTyrLeuArgArgAlaMetLysArgPheAsnLysGlyValHisGluAspThrHisLysValHisLeuLeuCysLeuLeuAlaAsnGlyPheTyrArgAsnAsnIleCysSerGlnProAspLeuHisAlaIleGlyLeuSerIleIleProAlaArgPheThrArgValLeuProArgAspValAspThrTyrTyrLeuSerAsnLeuValLysTrpPheIleGlyThrPheThrValAsnAlaGluLeuSerAlaSerGluGlnAspAsnLeuGlnThrThrLeuGluArgArgPheAlaIleTyrSerAlaArgAspAspGluGluLeuValHisIlePheLeuLeuIleLeuArgAlaLeuGlnLeuLeuThrArgLeuValLeuSerLeuGlnProIleProLeuLysSerAlaThrAlaLysGlyLysLysProSerLysGluArgLeuThrAlaAspProGlyGlySerSerGluThrSerSerGlnValLeuGluAsnHisThrLysProLysThrSerLysGlyThrLysGlnGluGluThrPheAlaLysGlyThrCysArgProSerAlaLysGlyLysArgAsnLysGlyGlyArgLysLysArgSerLysProSerSerSerGluGluAspGluGlyProGlyAspLysGlnGluLysAlaThrGlnArgArgProHisGlyArgGluArgArgValAlaSerArgValSerTyrLysGluGluSerGlySerAspGluAlaGlySerGlySerAspPheGluLeuSerSerGlyGluAlaSerAspProSerAspGluAspSerGluProGlyProProLysGlnArgLysAlaProAlaProGlnArgThrLysAlaGlySerLysSerAlaSerArgThrHisArgGlySerHisArgLysAspProSerLeuProAlaAlaSerSerSerSerSerSerSerLysArgGlyLysLysMetCysSerAspGlyGluLysAlaGluLysArgSerIleAlaGlyIleAspGlnTrpLeuGluValPheCysGluGlnGluGluLysTrpPheGlnAlaLysHisMetAspGlnProLeuProThrAlaIleGlyLeuTyrLysAsnHisProLeuTyrAlaLeuLysArgHisLeuLeuLysTyrGluAlaIleTyrProGluThrAlaAlaIleLeuGlyTyrCysArgGlyGluAlaValTyrSerArgAspCysValHisThrLeuHisSerArgAspThrTrpLeuLysLysAlaArgValValArgLeuGlyGluValProTyrLysMetValLysGlyPheSerAsnArgAlaArgLysAlaArgLeuAlaGluProGlnLeuArgGluGluAsnAspLeuGlyLeuPheGlyTyrTrpGlnThrGluGluTyrGlnProProValAlaValAspGlyLysValProArgAsnGluPheGlyAsnValTyrLeuPheLeuProSerMetMetProIleGlyCysValGlnLeuAsnLeuProAsnLeuHisArgValAlaArgLysLeuAspIleAspCysValGlnAlaIleThrGlyPheAspPheHisGlyGlyTyrSerHisProValThrAspGlyTyrIleValCysGluGluPheLysAspValLeuLeuThrAlaTrpGluAsnGluGlnAlaValIleGluArgLysGluLysGluLysLysGluLysArgAlaLeuGlyAsnTrpLysLeuLeuAlaLysGlyLeuLeuIleArgGluArgLeuLysArgArgTyrGlyProLysSerGluAlaAlaAlaProHisThrAspAlaGlyGlyGlyLeuSerSerAspGluGluGluGlyThrSerSerGlnAlaGluAlaAlaArgIleLeuAlaAlaSerTrpProGlnAsnArgGluAspGluGluLysGlnLysLeuLysGlyGlyProLysLysThrLysArgGluLysLysAlaAlaAlaSerHisLeuPheProPheGluGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720556" } ], "type": "nucleotide" }