{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344934512", "communityStandardTitle": [ "NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2066435[alleleid]", "alleleId": 2066435, "preferredName": "NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2008485", "RCV": [ "RCV002816605" ], "variationId": 2008485 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235918839G>A?assembly=hg19", "id": "chr1:g.235918839G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235755539G>A?assembly=hg38", "id": "chr1:g.235755539G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2527761127", "rs": 2527761127 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235755539, "referenceAllele": "G", "start": 235755538 } ], "hgvs": [ "NC_000001.11:g.235755539G>A", "CM000663.2:g.235755539G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235918839, "referenceAllele": "G", "start": 235918838 } ], "hgvs": [ "NC_000001.10:g.235918839G>A", "CM000663.1:g.235918839G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 233985462, "referenceAllele": "G", "start": 233985461 } ], "hgvs": [ "NC_000001.9:g.233985462G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 133102, "referenceAllele": "C", "start": 133101 } ], "hgvs": [ "NG_007397.1:g.133102C>T", "LRG_143:g.133102C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1843, "referenceAllele": "C", "start": 1842 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000461526.2:c.1843C>T" ], "proteinEffect": { "hgvs": "ENSP00000513165.1:p.Gln615Ter", "hgvsWellDefined": "ENSP00000513165.1:p.Gln615_His1013delinsGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnAlaHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905084" }, { "coordinates": [ { "allele": "T", "end": 7224, "referenceAllele": "C", "start": 7223 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697178.1:c.*2592C>T" ], "proteinEffect": { "hgvs": "ENSP00000513163.1:n.*2592C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908583" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697236.1:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000513203.1:p.Gln293Ter", "hgvsWellDefined": "ENSP00000513203.1:p.Gln293_Leu1011delinsGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnHisGlyAlaLysLeuValLeuTyrLeuSerGluLeuIleHisAsnHisGlnGlyGluLeuThrGluGluGluLeuGlyThrAlaGluLeuLeuMetAsnAlaLeuLysLeuCysGlyHisLysCysIleProProSerAlaSerThrLysAlaAspLeuIleLysMetIleLysGluGluGlnLysLysTyrGluThrGluGluGlyValAsnLysAlaAlaTrpGlnLysThrValAsnAsnAsnGlnGlnSerLeuPheGlnArgLeuAspSerLysSerLysAspIleSerLysIleAlaAlaAspIleThrGlnAlaValSerLeuSerGlnGlyAsnGluArgLysLysValIleGlnHisIleArgGlyMetTyrLysValAspLeuSerAlaSerArgHisTrpGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysLysSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908624" }, { "coordinates": [ { "allele": "T", "end": 1600, "referenceAllele": "C", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697241.1:c.1600C>T" ], "proteinEffect": { "hgvs": "ENSP00000513206.1:p.Gln534Ter", "hgvsWellDefined": "ENSP00000513206.1:p.Gln534_Val1408del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908629" }, { "coordinates": [ { "allele": "T", "end": 7329, "referenceAllele": "C", "start": 7328 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.7:c.7168C>T" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752840", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.7168C>T" }, "RefSeq": { "hgvs": "NM_000081.4:c.7168C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Gln2390Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Gln2390Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 7343, "referenceAllele": "C", "start": 7342 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.6:c.7168C>T" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS274290" }, { "coordinates": [ { "allele": "T", "end": 6920, "referenceAllele": "C", "start": 6919 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389794.7:c.*2592C>T" ], "proteinEffect": { "hgvs": "ENSP00000374444.4:n.*2592C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS274291" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.3:c.7168C>T", "LRG_143t1:c.7168C>T" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006145" }, { "coordinates": [ { "allele": "T", "end": 7787, "referenceAllele": "C", "start": 7786 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_001301365.1:c.7168C>T", "LRG_143t2:c.7168C>T" ], "proteinEffect": { "hgvs": "NP_001288294.1:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS025192" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544031.1:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542333.1:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110944" }, { "coordinates": [ { "allele": "T", "end": 7753, "referenceAllele": "C", "start": 7752 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544032.1:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542334.1:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110945" }, { "coordinates": [ { "allele": "T", "end": 7551, "referenceAllele": "C", "start": 7550 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.1:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110946" }, { "coordinates": [ { "allele": "T", "end": 7212, "referenceAllele": "C", "start": 7211 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544034.1:c.7030C>T" ], "proteinEffect": { "hgvs": "XP_011542336.1:p.Gln2344Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110947" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.1:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Gln2390Ter", "hgvsWellDefined": "XP_011542337.1:p.Gln2390_Phe3318delinsGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnHisGlyAlaLysLeuValLeuTyrLeuSerGluLeuIleHisAsnHisGlnGlyGluLeuThrGluGluGluLeuGlyThrAlaGluLeuLeuMetAsnAlaLeuLysLeuCysGlyHisLysCysIleProProSerAlaSerThrLysAlaAspLeuIleLysMetIleLysGluGluGlnLysLysTyrGluThrGluGluGlyValAsnLysAlaAlaTrpGlnLysThrValAsnAsnAsnGlnGlnSerLeuPheGlnArgLeuAspSerLysSerLysAspIleSerLysIleAlaAlaAspIleThrGlnAlaValSerLeuSerGlnGlyAsnGluArgLysLysValIleGlnHisIleArgGlyMetTyrLysValAspLeuSerAlaSerArgHisTrpGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110948" }, { "coordinates": [ { "allele": "T", "end": 4995, "referenceAllele": "C", "start": 4994 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.1:c.4831C>T" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Gln1611Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110949" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544037.1:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542339.1:p.Gln2390Ter", "hgvsWellDefined": "XP_011542339.1:p.Gln2390_His2876delinsGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnArgGluIleCysIleAspTyrSerThrAlaProTyrArgLeuLeuTyrSerSerLysLysGluGlnThrThrGlyThrSerThrIleMetAspGluSerGlnLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110950" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544038.1:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542340.1:p.Gln2390Ter", "hgvsWellDefined": "XP_011542340.1:p.Gln2390_His2842delinsGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnAlaHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110951" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.1:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Gln2390Ter", "hgvsWellDefined": "XP_011542341.1:p.Gln2390_Ala2555delinsGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnIleSerSerValPheArgTyrGlyCysCysThrThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110952" }, { "coordinates": [ { "allele": "T", "end": 7500, "referenceAllele": "C", "start": 7499 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555477" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Gln2390Ter", "hgvsWellDefined": "XP_011542337.1:p.Gln2390_Phe3318delinsGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnHisGlyAlaLysLeuValLeuTyrLeuSerGluLeuIleHisAsnHisGlnGlyGluLeuThrGluGluGluLeuGlyThrAlaGluLeuLeuMetAsnAlaLeuLysLeuCysGlyHisLysCysIleProProSerAlaSerThrLysAlaAspLeuIleLysMetIleLysGluGluGlnLysLysTyrGluThrGluGluGlyValAsnLysAlaAlaTrpGlnLysThrValAsnAsnAsnGlnGlnSerLeuPheGlnArgLeuAspSerLysSerLysAspIleSerLysIleAlaAlaAspIleThrGlnAlaValSerLeuSerGlnGlyAsnGluArgLysLysValIleGlnHisIleArgGlyMetTyrLysValAspLeuSerAlaSerArgHisTrpGlnGluLeuIleGlnGlnLeuThrHisAspArgAlaValTrpTyrAspProIleTyrTyrProThrSerTrpGlnLeuAspProThrGluGlyProAsnArgGluArgArgArgLeuGlnArgCysTyrLeuThrIleProAsnLysTyrLeuLeuArgAspArgGlnLysSerGluAspValValLysProProLeuSerTyrLeuPheGluAspLysThrHisSerSerPheSerSerThrValLysAspLysAlaAlaSerGluSerIleArgValAsnArgArgCysIleSerValAlaProSerArgGluThrAlaGlyGluLeuLeuLeuGlyLysCysGlyMetTyrPheValGluAspAsnAlaSerAspThrValGluSerSerSerLeuGlnGlyGluLeuGluProAlaSerPheSerTrpThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555478" }, { "coordinates": [ { "allele": "T", "end": 5004, "referenceAllele": "C", "start": 5003 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.4831C>T" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Gln1611Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555479" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544037.2:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542339.1:p.Gln2390Ter", "hgvsWellDefined": "XP_011542339.1:p.Gln2390_His2876delinsGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnAsnMetAlaValAlaLeuGlnLeuArgValLeuGlnAlaAlaMetGluPheIleArgThrThrAlaAsnHisAspSerGluAsnLeuThrAspSerLeuGlnSerProSerAlaProHisHisAlaValValGlnLysArgLysSerIleAlaGlySerIleProMetLysGlySerIleIleProHisLeuProArgHisHisPheGlySerTyrGlyGlnLeuProMetProPheSerPheGlyProLeuAsnGlnAspSerSerProGlnPheSerProGlyCysThrThrCysValValProProGlyAlaGlyProArgLysPheProLeuAlaGlnThrGluSerLeuLeuMetLysMetArgSerValAlaAsnAspGluLeuHisValMetMetGlnArgArgMetSerGlnGluAsnProSerGlnAlaThrGluThrGluLeuAlaGlnArgLeuGlnArgLeuThrValLeuAlaValAsnArgIleIleTyrGlnGluPheAsnSerAspIleIleAspIleLeuArgThrProGluAsnValThrGlnSerLysThrSerValPheGlnThrGluIleSerGluGluAsnIleHisHisGluGlnSerSerValPheAsnProPheGlnLysGluIlePheThrTyrLeuValGluGlyPheLysValSerIleGlySerSerLysAlaSerGlySerLysGlnGlnTrpThrLysIleLeuTrpSerCysLysGluThrPheArgMetGlnLeuGlyArgLeuLeuValHisIleLeuSerProAlaHisAlaAlaGlnGluArgLysGlnIlePheGluIleValHisGluProAsnHisGlnGluIleLeuArgAspCysLeuSerProSerLeuGlnArgGluIleCysIleAspTyrSerThrAlaProTyrArgLeuLeuTyrSerSerLysLysGluGlnThrThrGlyThrSerThrIleMetAspGluSerGlnLysHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555480" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.2:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Gln2390Ter", "hgvsWellDefined": "XP_011542341.1:p.Gln2390_Ala2555delinsGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnIleSerSerValPheArgTyrGlyCysCysThrThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555481" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.7168C>T" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736946.2:n.7350C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587794" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.7350C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "coordinates": [ { "allele": "T", "end": 7350, "referenceAllele": "C", "start": 7349 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736948.1:n.7350C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587796" }, { "coordinates": [ { "allele": "T", "end": 7329, "referenceAllele": "C", "start": 7328 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.7168C>T" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Gln2390Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.7168C>T" }, "RefSeq": { "hgvs": "NM_000081.4:c.7168C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Gln2390Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Gln2390Ter" } } } } ], "type": "nucleotide" }