{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344924856", "communityStandardTitle": [ "NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1941428[alleleid]", "alleleId": 1941428, "preferredName": "NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2418862", "RCV": [ "RCV003112106" ], "variationId": 2418862 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235907350G>A?assembly=hg19", "id": "chr1:g.235907350G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235744050G>A?assembly=hg38", "id": "chr1:g.235744050G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1665672573", "rs": 1665672573 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235744050, 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"XP_011542337.1:p.Gln2748_Phe3318delinsSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnHisGlyAlaLysLeuValLeuTyrLeuSerGluLeuIleHisAsnHisGlnGlyGluLeuThrGluGluGluLeuGlyThrAlaGluLeuLeuMetAsnAlaLeuLysLeuCysGlyHisLysCysIleProProSerAlaSerThrLysAlaAspLeuIleLysMetIleLysGluGluGlnLysLysTyrGluThrGluGluGlyValAsnLysAlaAlaTrpGlnLysThrValAsnAsnAsnGlnGlnSerLeuPheGlnArgLeuAspSerLysSerLysAspIleSerLysIleAlaAlaAspIleThrGlnAlaValSerLeuSerGlnGlyAsnGluArgLysLysValIleGlnHisIleArgGlyMetTyrLysValAspLeuSerAlaSerArgHisTrpGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110948" }, { "coordinates": [ { "allele": "T", "end": 6069, "referenceAllele": "C", "start": 6068 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.1:c.5905C>T" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Gln1969Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110949" }, { "coordinates": [ { "allele": "T", "end": 8424, "referenceAllele": "C", "start": 8423 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544037.1:c.8242C>T" ], "proteinEffect": { "hgvs": "XP_011542339.1:p.Gln2748Ter", "hgvsWellDefined": "XP_011542339.1:p.Gln2748_His2876delinsSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnArgGluIleCysIleAspTyrSerThrAlaProTyrArgLeuLeuTyrSerSerLysLysGluGlnThrThrGlyThrSerThrIleMetAspGluSerGlnLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110950" }, { "coordinates": [ { "allele": "T", "end": 8424, "referenceAllele": "C", "start": 8423 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544038.1:c.8242C>T" ], "proteinEffect": { "hgvs": "XP_011542340.1:p.Gln2748Ter", "hgvsWellDefined": 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"XP_011542337.1:p.Gln2748_Phe3318delinsSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnHisGlyAlaLysLeuValLeuTyrLeuSerGluLeuIleHisAsnHisGlnGlyGluLeuThrGluGluGluLeuGlyThrAlaGluLeuLeuMetAsnAlaLeuLysLeuCysGlyHisLysCysIleProProSerAlaSerThrLysAlaAspLeuIleLysMetIleLysGluGluGlnLysLysTyrGluThrGluGluGlyValAsnLysAlaAlaTrpGlnLysThrValAsnAsnAsnGlnGlnSerLeuPheGlnArgLeuAspSerLysSerLysAspIleSerLysIleAlaAlaAspIleThrGlnAlaValSerLeuSerGlnGlyAsnGluArgLysLysValIleGlnHisIleArgGlyMetTyrLysValAspLeuSerAlaSerArgHisTrpGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" 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"XP_011542339.1:p.Gln2748_His2876delinsSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnArgGluIleCysIleAspTyrSerThrAlaProTyrArgLeuLeuTyrSerSerLysLysGluGlnThrThrGlyThrSerThrIleMetAspGluSerGlnLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555480" }, { "coordinates": [ { "allele": "T", "end": 8424, "referenceAllele": "C", "start": 8423 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.8242C>T" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Gln2748Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "T", "end": 8424, "referenceAllele": "C", "start": 8423 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736946.2:n.8424C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587794" }, { "coordinates": [ { "allele": "T", "end": 8262, "referenceAllele": "C", "start": 8261 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.8262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "coordinates": [ { "allele": "T", "end": 7711, "referenceAllele": "C", "start": 7710 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736948.1:n.7711C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587796" }, { "coordinates": [ { "allele": "T", "end": 8241, "referenceAllele": "C", "start": 8240 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.8080C>T" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Gln2694Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.8080C>T" }, "RefSeq": { "hgvs": "NM_000081.4:c.8080C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Gln2694Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Gln2694Ter" } } } } ], "type": "nucleotide" }