{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344954476", "communityStandardTitle": [ "NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1364238[alleleid]", "alleleId": 1364238, "preferredName": "NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1452518", "RCV": [ "RCV002037676" ], "variationId": 1452518 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235969474G>A?assembly=hg19", "id": "chr1:g.235969474G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235806174G>A?assembly=hg38", "id": "chr1:g.235806174G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1236600542", "rs": 1236600542 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-235969474-G-A?dataset=gnomad_r2_1", "id": "1-235969474-G-A", "variant": "1:235969474 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-235806174-G-A?dataset=gnomad_r4", "id": "1-235806174-G-A", "variant": "1:235806174 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235806174, "referenceAllele": "G", "start": 235806173 } ], "hgvs": [ "NC_000001.11:g.235806174G>A", "CM000663.2:g.235806174G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 235969474, "referenceAllele": "G", "start": 235969473 } ], "hgvs": [ "NC_000001.10:g.235969474G>A", "CM000663.1:g.235969474G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 234036097, "referenceAllele": "G", "start": 234036096 } ], "hgvs": [ "NC_000001.9:g.234036097G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 82467, "referenceAllele": "C", "start": 82466 } ], "hgvs": [ "NG_007397.1:g.82467C>T", "LRG_143:g.82467C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3445, "referenceAllele": "C", "start": 3444 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697178.1:c.2962C>T" ], "proteinEffect": { "hgvs": "ENSP00000513163.1:p.Arg988Ter", "hgvsWellDefined": "ENSP00000513163.1:p.Arg988_Thr1382delinsValCysHisLysLeuIlePheMetIleIleGlnLysLeuPheArgSerHisLysGluGluGlnGlyLysLysGluGlyAspThrSerValAsnGluAsnGlnAspLeuAsnArgIleSerGlnProLysArgThrMetLysGluAspLeuLeuSerLeuAlaIleLysSerAspProIleProSerGluLeuGlySerLeuLysLysSerAlaAspSerLeuGlyLysLeuGluLeuGlnHisIleSerSerIleAsnValGluGluValSerAlaThrGluAlaAlaProGluGluAlaLysLeuPheThrSerGlnGluSerGluThrSerLeuGlnSerIleArgLeuLeuGluAlaLeuLeuAlaIleCysLeuHisGlyAlaArgThrSerGlnGlnLysMetGluLeuGluLeuProAsnGlnAsnLeuSerValGluSerIleLeuPheGluMetArgAspHisLeuSerGlnSerLysValIleGluThrGlnLeuAlaLysProLeuPheAspAlaLeuLeuArgValAlaLeuGlyAsnTyrSerAlaAspPheGluHisAsnAspAlaMetThrGluLysSerHisGlnSerAlaGluGluLeuSerSerGlnProGlyAspPheSerGluGluAlaGluAspSerGlnCysCysSerPheLysLeuLeuValGluGluGluGlyTyrGluAlaAspSerGluSerAsnProGluAspGlyGluThrGlnAspAspGlyValAspLeuLysSerGluThrGluGlyPheSerAlaSerSerSerProAsnAspLeuLeuGluAsnLeuThrGlnGlyGluIleIleTyrProGluIleCysMetLeuGluLeuAsnLeuLeuSerAlaSerLysAlaLysLeuAspValLeuAlaHisValPheGluSerPheLeuLysIleIleArgGlnLysGluLysAsnValPheLeuLeuMetGlnGlnGlyThrValLysAsnLeuLeuGlyGlyPheLeuSerIleLeuThrGlnAspAspSerAspPheGlnAlaCysGlnArgValLeuValAspLeuLeuValSerLeuMetSerSerArgThrCysSerGluGluLeuThrLeuLeuLeuArgIlePheLeuGluLysSerProCysThrArgAlaThrAspGlnLysValGlnSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908583" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697242.1:c.2365C>T" ], "proteinEffect": { "hgvs": "ENSP00000513207.1:p.Arg789Ter", "hgvsWellDefined": "ENSP00000513207.1:p.Arg789_Cys1266del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908630" }, { "coordinates": [ { "allele": "T", "end": 3123, "referenceAllele": "C", "start": 3122 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.7:c.2962C>T" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752840", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.2962C>T" }, "RefSeq": { "hgvs": "NM_000081.4:c.2962C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Arg988Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Arg988Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3137, "referenceAllele": "C", "start": 3136 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.6:c.2962C>T" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS274290" }, { "coordinates": [ { "allele": "T", "end": 3141, "referenceAllele": "C", "start": 3140 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389794.7:c.2962C>T" ], "proteinEffect": { "hgvs": "ENSP00000374444.4:p.Arg988Ter", "hgvsWellDefined": "ENSP00000374444.4:p.Arg988_Thr1382delinsValCysHisLysLeuIlePheMetIleIleGlnLysLeuPheArgSerHisLysGluGluGlnGlyLysLysGluGlyAspThrSerValAsnGluAsnGlnAspLeuAsnArgIleSerGlnProLysArgThrMetLysGluAspLeuLeuSerLeuAlaIleLysSerAspProIleProSerGluLeuGlySerLeuLysLysSerAlaAspSerLeuGlyLysLeuGluLeuGlnHisIleSerSerIleAsnValGluGluValSerAlaThrGluAlaAlaProGluGluAlaLysLeuPheThrSerGlnGluSerGluThrSerLeuGlnSerIleArgLeuLeuGluAlaLeuLeuAlaIleCysLeuHisGlyAlaArgThrSerGlnGlnLysMetGluLeuGluLeuProAsnGlnAsnLeuSerValGluSerIleLeuPheGluMetArgAspHisLeuSerGlnSerLysValIleGluThrGlnLeuAlaLysProLeuPheAspAlaLeuLeuArgValAlaLeuGlyAsnTyrSerAlaAspPheGluHisAsnAspAlaMetThrGluLysSerHisGlnSerAlaGluGluLeuSerSerGlnProGlyAspPheSerGluGluAlaGluAspSerGlnCysCysSerPheLysLeuLeuValGluGluGluGlyTyrGluAlaAspSerGluSerAsnProGluAspGlyGluThrGlnAspAspGlyValAspLeuLysSerGluThrGluGlyPheSerAlaSerSerSerProAsnAspLeuLeuGluAsnLeuThrGlnGlyGluIleIleTyrProGluIleCysMetLeuGluLeuAsnLeuLeuSerAlaSerLysAlaLysLeuAspValLeuAlaHisValPheGluSerPheLeuLysIleIleArgGlnLysGluLysAsnValPheLeuLeuMetGlnGlnGlyThrValLysAsnLeuLeuGlyGlyPheLeuSerIleLeuThrGlnAspAspSerAspPheGlnAlaCysGlnArgValLeuValAspLeuLeuValSerLeuMetSerSerArgThrCysSerGluGluLeuThrLeuLeuLeuArgIlePheLeuGluLysSerProCysThrArgAlaThrAspGlnLysValGlnSerThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274291" }, { "coordinates": [ { "allele": "T", "end": 3513, "referenceAllele": "C", "start": 3512 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000465349.5:n.3513C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS308972" }, { "coordinates": [ { "allele": "T", "end": 3513, "referenceAllele": "C", "start": 3512 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000489585.5:n.3513C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS327618" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.3:c.2962C>T", "LRG_143t1:c.2962C>T" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006145" }, { "coordinates": [ { "allele": "T", "end": 3581, "referenceAllele": "C", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_001301365.1:c.2962C>T", "LRG_143t2:c.2962C>T" ], "proteinEffect": { "hgvs": "NP_001288294.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS025192" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544031.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542333.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110944" }, { "coordinates": [ { "allele": "T", "end": 3547, "referenceAllele": "C", "start": 3546 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544032.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542334.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110945" }, { "coordinates": [ { "allele": "T", "end": 3345, "referenceAllele": "C", "start": 3344 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110946" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544034.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542336.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110947" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110948" }, { "coordinates": [ { "allele": "T", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.1:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Arg209Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110949" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544037.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542339.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110950" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544038.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542340.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110951" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110952" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544040.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542342.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110953" }, { "coordinates": [ { "allele": "T", "end": 3294, "referenceAllele": "C", "start": 3293 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555477" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555478" }, { "coordinates": [ { "allele": "T", "end": 798, "referenceAllele": "C", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.625C>T" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Arg209Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555479" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544037.2:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542339.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555480" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544039.2:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_011542341.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555481" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000151.1:c.2962C>T" ], "proteinEffect": { "hgvs": "XP_016855640.1:p.Arg988Ter", "hgvsWellDefined": "XP_016855640.1:p.Arg988_Thr1963delinsValCysHisLysLeuIlePheMetIleIleGlnLysLeuPheArgSerHisLysGluGluGlnGlyLysLysGluGlyAspThrSerValAsnGluAsnGlnAspLeuAsnArgIleSerGlnProLysArgThrMetLysGluAspLeuLeuSerLeuAlaIleLysSerAspProIleProSerGluLeuGlySerLeuLysLysSerAlaAspSerLeuGlyLysLeuGluLeuGlnHisIleSerSerIleAsnValGluGluValSerAlaThrGluAlaAlaProGluGluAlaLysLeuPheThrSerGlnGluSerGluThrSerLeuGlnSerIleArgLeuLeuGluAlaLeuLeuAlaIleCysLeuHisGlyAlaArgThrSerGlnGlnLysMetGluLeuGluLeuProAsnGlnAsnLeuSerValGluSerIleLeuPheGluMetArgAspHisLeuSerGlnSerLysValIleGluThrGlnLeuAlaLysProLeuPheAspAlaLeuLeuArgValAlaLeuGlyAsnTyrSerAlaAspPheGluHisAsnAspAlaMetThrGluLysSerHisGlnSerAlaGluGluLeuSerSerGlnProGlyAspPheSerGluGluAlaGluAspSerGlnCysCysSerPheLysLeuLeuValGluGluGluGlyTyrGluAlaAspSerGluSerAsnProGluAspGlyGluThrGlnAspAspGlyValAspLeuLysSerGluThrGluGlyPheSerAlaSerSerSerProAsnAspLeuLeuGluAsnLeuThrGlnGlyGluIleIleTyrProGluIleCysMetLeuGluLeuAsnLeuLeuSerAlaSerLysAlaLysLeuAspValLeuAlaHisValPheGluSerPheLeuLysIleIleArgGlnLysGluLysAsnValPheLeuLeuMetGlnGlnGlyThrValLysAsnLeuLeuGlyGlyPheLeuSerIleLeuThrGlnAspAspSerAspPheGlnAlaCysGlnArgValLeuValAspLeuLeuValSerLeuMetSerSerArgThrCysSerGluGluLeuThrLeuLeuLeuArgIlePheLeuGluLysSerProCysThrLysIleLeuLeuLeuGlyIleLeuLysIleIleGluSerAspThrThrMetSerProSerGlnTyrLeuThrPheProLeuLeuHisAlaProAsnLeuSerAsnGlyValSerSerGlnLysTyrProGlyIleLeuAsnSerLysAlaMetGlyLeuLeuArgArgAlaArgValSerArgSerLysLysGluAlaAspArgGluSerPheProHisArgLeuLeuSerSerTrpHisIleAlaProValHisLeuProLeuLeuGlyGlnAsnCysTrpProHisLeuSerGluGlyPheSerValSerLeuTrpPheAsnValGluCysIleHisGluAlaGluSerThrThrGluLysGlyLysLysIleLysLysArgAsnLysSerLeuIleLeuProAspSerSerPheAspGlyThrGluSerAspArgProGluGlyAlaGluTyrIleAsnProGlyGluArgLeuIleGluGluGlyCysIleHisIleIleSerLeuGlySerLysAlaLeuMetIleGlnValTrpAlaAspProHisAsnAlaThrLeuIlePheArgValCysMetAspSerAsnAspAspMetLysAlaValLeuLeuAlaGlnValGluSerGlnGluAsnIlePheLeuProSerLysTrpGlnHisLeuValLeuThrTyrLeuGlnGlnProGlnGlyLysArgArgIleHisGlyLysIleSerIleTrpValSerGlyGlnArgLysProAspValThrLeuAspPheMetLeuProArgLysThrSerLeuSerSerAspSerAsnLysThrPheCysMetIleGlyHisCysLeuSerSerGlnGluGluPheLeuGlnLeuAlaGlyLysTrpAspLeuGlyAsnLeuLeuLeuPheAsnGlyAlaLysValGlySerGlnGluAlaPheTyrLeuTyrAlaCysGlyProAsnHisThrSerValMetProCysLysTyrGlyLysProValAsnAspTyrSerLysTyrIleAsnLysGluIleLeuArgCysGluGlnIleArgGluLeuPheMetThrLysLysAspValAspIleGlyLeuLeuIleGluSerLeuSerValValTyrThrThrTyrCysProAlaGlnTyrThrIleTyrGluProValIleArgLeuLysGlyGlnMetLysThrGlnLeuSerGlnArgProPheSerSerLysGluValGlnSerIleLeuLeuGluProHisHisLeuLysAsnLeuGlnProThrGluTyrLysThrIleGlnGlyIleLeuHisGluIleGlyGlyThrGlyIlePheValPheLeuPheAlaArgValValGluLeuSerSerCysGluGluThrGlnAlaLeuAlaLeuArgValIleLeuSerLeuIleLysTyrAsnGlnGlnArgValHisGluLeuGluAsnCysAsnGlyLeuSerMetIleHisGlnValLeuIleLysGlnLysCysIleValGlyPheTyrIleLeuLysThrLeuLeuGluGlyCysCysGlyGluAspIleIleTyrMetAsnGluAsnGlyGluPheLysLeuAspValAspSerAsnAlaIleIleGlnAspValLysLeuLeuGluGluLeuLeuLeuAspTrpLysIleTrpSerLysAlaGluGluTyrLysGluGlyGlnLeuThrProMetProArgGluGlnPheThrLeuLeuLeuIleLeuThrPheValThrIleProArgThrSerThrPheLeuCysThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556568" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736946.2:n.3144C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587794" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.3144C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736948.1:n.3144C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587796" }, { "coordinates": [ { "allele": "T", "end": 3144, "referenceAllele": "C", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_002959252.1:n.3144C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605185" }, { "coordinates": [ { "allele": "T", "end": 3123, "referenceAllele": "C", "start": 3122 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.2962C>T" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Arg988Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.2962C>T" }, "RefSeq": { "hgvs": "NM_000081.4:c.2962C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Arg988Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Arg988Ter" } } } } ], "type": "nucleotide" }