{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344948061", "communityStandardTitle": [ "NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3771658", "active": true, "id": "COSM3771658" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=515536[alleleid]", "alleleId": 515536, "preferredName": "NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/525149", "RCV": [ "RCV000629191" ], "variationId": 525149 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235929544G>A?assembly=hg19", "id": "chr1:g.235929544G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235766244G>A?assembly=hg38", "id": "chr1:g.235766244G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1188244229", "rs": 1188244229 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-235766244-G-A?dataset=gnomad_r3", "id": "1-235766244-G-A", "variant": "1:235766244 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-235766244-G-A?dataset=gnomad_r4", "id": "1-235766244-G-A", "variant": "1:235766244 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235766244, "referenceAllele": "G", "start": 235766243 } ], "hgvs": [ "NC_000001.11:g.235766244G>A", "CM000663.2:g.235766244G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235929544, "referenceAllele": "G", "start": 235929543 } ], "hgvs": [ "NC_000001.10:g.235929544G>A", "CM000663.1:g.235929544G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 233996167, "referenceAllele": "G", "start": 233996166 } ], "hgvs": [ "NC_000001.9:g.233996167G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 122397, "referenceAllele": "C", "start": 122396 } ], "hgvs": [ "NG_007397.1:g.122397C>T", "LRG_143:g.122397C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 631, "referenceAllele": "C", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000461526.2:c.631C>T" ], "proteinEffect": { "hgvs": "ENSP00000513165.1:p.Arg211Ter", "hgvsWellDefined": "ENSP00000513165.1:p.Arg211_His1013delinsGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnAlaHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905084" }, { "coordinates": [ { "allele": "T", "end": 6012, "referenceAllele": "C", "start": 6011 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697178.1:c.*1380C>T" ], "proteinEffect": { "hgvs": "ENSP00000513163.1:n.*1380C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908583" }, { "coordinates": [ { "allele": "T", "end": 552, "referenceAllele": "C", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697180.1:c.552C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908585" }, { "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697241.1:c.388C>T" ], "proteinEffect": { "hgvs": "ENSP00000513206.1:p.Arg130Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS908629" }, { "coordinates": [ { "allele": "T", "end": 6117, "referenceAllele": "C", "start": 6116 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.7:c.5956C>T" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752840", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.5956C>T" }, "RefSeq": { "hgvs": "NM_000081.4:c.5956C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Arg1986Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Arg1986Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 6131, "referenceAllele": "C", "start": 6130 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.6:c.5956C>T" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS274290" }, { "coordinates": [ { "allele": "T", "end": 5708, "referenceAllele": "C", "start": 5707 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389794.7:c.*1380C>T" ], "proteinEffect": { "hgvs": "ENSP00000374444.4:n.*1380C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS274291" }, { "coordinates": [ { "allele": "T", "end": 6507, "referenceAllele": "C", "start": 6506 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000489585.5:n.6507C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS327618" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.3:c.5956C>T", "LRG_143t1:c.5956C>T" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006145" }, { "coordinates": [ { "allele": "T", "end": 6575, "referenceAllele": "C", "start": 6574 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_001301365.1:c.5956C>T", "LRG_143t2:c.5956C>T" ], "proteinEffect": { "hgvs": "NP_001288294.1:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS025192" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544031.1:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542333.1:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110944" }, { "coordinates": [ { "allele": "T", "end": 6541, "referenceAllele": "C", "start": 6540 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544032.1:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542334.1:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110945" }, { "coordinates": [ { "allele": "T", "end": 6339, "referenceAllele": "C", "start": 6338 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.1:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110946" }, { "coordinates": [ { "allele": "T", "end": 6000, "referenceAllele": "C", "start": 5999 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544034.1:c.5818C>T" ], "proteinEffect": { "hgvs": "XP_011542336.1:p.Arg1940Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110947" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.1:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110948" }, { "coordinates": [ { "allele": "T", "end": 3783, "referenceAllele": "C", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.1:c.3619C>T" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Arg1207Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110949" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544037.1:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542339.1:p.Arg1986Ter", "hgvsWellDefined": "XP_011542339.1:p.Arg1986_His2876delinsGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnArgGluIleCysIleAspTyrSerThrAlaProTyrArgLeuLeuTyrSerSerLysLysGluGlnThrThrGlyThrSerThrIleMetAspGluSerGlnLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110950" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544038.1:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542340.1:p.Arg1986Ter", "hgvsWellDefined": "XP_011542340.1:p.Arg1986_His2842delinsGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnAlaHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110951" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.1:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Arg1986Ter", "hgvsWellDefined": "XP_011542341.1:p.Arg1986_Ala2555delinsGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnIleSerSerValPheArgTyrGlyCysCysThrThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110952" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544040.1:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542342.1:p.Arg1986Ter", "hgvsWellDefined": "XP_011542342.1:p.Arg1986_Thr2009delinsGluGlnPheThrLeuLeuLeuIleLeuThrPheValThrIleProArgThrSerThrPheLeuCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110953" }, { "coordinates": [ { "allele": "T", "end": 6288, "referenceAllele": "C", "start": 6287 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555477" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555478" }, { "coordinates": [ { "allele": "T", "end": 3792, "referenceAllele": "C", "start": 3791 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.3619C>T" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Arg1207Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555479" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544037.2:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542339.1:p.Arg1986Ter", "hgvsWellDefined": "XP_011542339.1:p.Arg1986_His2876delinsGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnArgGluIleCysIleAspTyrSerThrAlaProTyrArgLeuLeuTyrSerSerLysLysGluGlnThrThrGlyThrSerThrIleMetAspGluSerGlnLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555480" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.2:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Arg1986Ter", "hgvsWellDefined": "XP_011542341.1:p.Arg1986_Ala2555delinsGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnIleSerSerValPheArgTyrGlyCysCysThrThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555481" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.5956C>T" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "T", "end": 6000, "referenceAllele": "C", "start": 5999 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000151.1:c.5818C>T" ], "proteinEffect": { "hgvs": "XP_016855640.1:p.Arg1940Ter", "hgvsWellDefined": "XP_016855640.1:p.Arg1940_Thr1963delinsGluGlnPheThrLeuLeuLeuIleLeuThrPheValThrIleProArgThrSerThrPheLeuCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556568" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736946.2:n.6138C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587794" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.6138C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736948.1:n.6138C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587796" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_002959252.1:n.6138C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605185" }, { "coordinates": [ { "allele": "T", "end": 6117, "referenceAllele": "C", "start": 6116 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.5956C>T" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Arg1986Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.5956C>T" }, "RefSeq": { "hgvs": "NM_000081.4:c.5956C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Arg1986Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Arg1986Ter" } } } } ], "type": "nucleotide" }