{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344945793", "communityStandardTitle": [ "NM_000081.4(LYST):c.9201G>A (p.Trp3067Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235887442C>T?assembly=hg19", "id": "chr1:g.235887442C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235724142C>T?assembly=hg38", "id": "chr1:g.235724142C>T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235724142, "referenceAllele": "C", "start": 235724141 } ], "hgvs": [ "NC_000001.11:g.235724142C>T", "CM000663.2:g.235724142C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235887442, "referenceAllele": "C", "start": 235887441 } ], "hgvs": [ "NC_000001.10:g.235887442C>T", "CM000663.1:g.235887442C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 233954065, "referenceAllele": "C", "start": 233954064 } ], "hgvs": [ "NC_000001.9:g.233954065C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 164499, "referenceAllele": "G", "start": 164498 } ], "hgvs": [ "NG_007397.1:g.164499G>A", "LRG_143:g.164499G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4729, "referenceAllele": "G", "start": 4728 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000461526.2:c.4729G>A" ], "proteinEffect": { "hgvs": "ENSP00000513165.1:n.4729G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905084" }, { "coordinates": [ { "allele": "A", "end": 1296, "referenceAllele": "G", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000475277.2:c.1296G>A" ], "proteinEffect": { "hgvs": "ENSP00000513164.1:p.Trp432Ter", "hgvsWellDefined": "ENSP00000513164.1:p.Trp432_Phe629delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905228" }, { "coordinates": [ { "allele": "A", "end": 9257, "referenceAllele": "G", "start": 9256 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697178.1:c.*4625G>A" ], "proteinEffect": { "hgvs": "ENSP00000513163.1:n.*4625G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908583" }, { "coordinates": [ { "allele": "A", "end": 2910, "referenceAllele": "G", "start": 2909 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697236.1:c.2910G>A" ], "proteinEffect": { "hgvs": "ENSP00000513203.1:p.Trp970Ter", "hgvsWellDefined": "ENSP00000513203.1:p.Trp970_Leu1011delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysLysSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908624" }, { "coordinates": [ { "allele": "A", "end": 157, "referenceAllele": "G", "start": 156 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697237.1:c.157G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908625" }, { "coordinates": [ { "allele": "A", "end": 1335, "referenceAllele": "G", "start": 1334 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697240.1:c.1335G>A" ], "proteinEffect": { "hgvs": "ENSP00000513205.1:p.Trp445Ter", "hgvsWellDefined": "ENSP00000513205.1:p.Trp445_Met1076delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerGlyArgSerSerValProTrpLeuSerProThrSerLeuArgGluTyrLeuSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908628" }, { "coordinates": [ { "allele": "A", "end": 3681, "referenceAllele": "G", "start": 3680 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697241.1:c.3681G>A" ], "proteinEffect": { "hgvs": "ENSP00000513206.1:p.Trp1227Ter", "hgvsWellDefined": "ENSP00000513206.1:p.Trp1227_Val1408del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908629" }, { "coordinates": [ { "allele": "A", "end": 9362, "referenceAllele": "G", "start": 9361 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.7:c.9201G>A" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Trp3067Ter", "hgvsWellDefined": "ENSP00000374443.2:p.Trp3067_Gly3801delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752840", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.9201G>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.9201G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Trp3067Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Trp3067Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 9376, "referenceAllele": "G", "start": 9375 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.6:c.9201G>A" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Trp3067Ter", "hgvsWellDefined": "ENSP00000374443.2:p.Trp3067_Gly3801delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274290" }, { "coordinates": [ { "allele": "A", "end": 8953, "referenceAllele": "G", "start": 8952 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389794.7:c.*4625G>A" ], "proteinEffect": { "hgvs": "ENSP00000374444.4:n.*4625G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS274291" }, { "coordinates": [ { "allele": "A", "end": 4191, "referenceAllele": "G", "start": 4190 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000473037.5:n.4191G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314875" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "G", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000475277.1:n.67G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316594" }, { "@id": "http://reg.genome.network/allele/PA2825050190", "coordinates": [ { "allele": "A", "end": 9383, "referenceAllele": "G", "start": 9382 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.3:c.9201G>A", "LRG_143t1:c.9201G>A" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Trp3067Ter", "hgvsWellDefined": "NP_000072.2:p.Trp3067_Gly3801delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006145" }, { "@id": "http://reg.genome.network/allele/PA2741854201", "coordinates": [ { "allele": "A", "end": 9820, "referenceAllele": "G", "start": 9819 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_001301365.1:c.9201G>A", "LRG_143t2:c.9201G>A" ], "proteinEffect": { "hgvs": "NP_001288294.1:p.Trp3067Ter", "hgvsWellDefined": "NP_001288294.1:p.Trp3067_Gly3801delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025192" }, { "coordinates": [ { "allele": "A", "end": 9545, "referenceAllele": "G", "start": 9544 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544031.1:c.9363G>A" ], "proteinEffect": { "hgvs": "XP_011542333.1:p.Trp3121Ter", "hgvsWellDefined": "XP_011542333.1:p.Trp3121_Gly3855delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110944" }, { "coordinates": [ { "allele": "A", "end": 9948, "referenceAllele": "G", "start": 9947 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544032.1:c.9363G>A" ], "proteinEffect": { "hgvs": "XP_011542334.1:p.Trp3121Ter", "hgvsWellDefined": "XP_011542334.1:p.Trp3121_Gly3855delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110945" }, { "coordinates": [ { "allele": "A", "end": 9746, "referenceAllele": "G", "start": 9745 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.1:c.9363G>A" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Trp3121Ter", "hgvsWellDefined": "XP_011542335.1:p.Trp3121_Gly3855delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110946" }, { "coordinates": [ { "allele": "A", "end": 9407, "referenceAllele": "G", "start": 9406 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544034.1:c.9225G>A" ], "proteinEffect": { "hgvs": "XP_011542336.1:p.Trp3075Ter", "hgvsWellDefined": "XP_011542336.1:p.Trp3075_Gly3809delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110947" }, { "coordinates": [ { "allele": "A", "end": 9545, "referenceAllele": "G", "start": 9544 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.1:c.9363G>A" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Trp3121Ter", "hgvsWellDefined": "XP_011542337.1:p.Trp3121_Phe3318delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110948" }, { "coordinates": [ { "allele": "A", "end": 7190, "referenceAllele": "G", "start": 7189 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.1:c.7026G>A" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Trp2342Ter", "hgvsWellDefined": "XP_011542338.1:p.Trp2342_Gly3076delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110949" }, { "coordinates": [ { "allele": "A", "end": 9695, "referenceAllele": "G", "start": 9694 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.9363G>A" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Trp3121Ter", "hgvsWellDefined": "XP_011542335.1:p.Trp3121_Gly3855delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555477" }, { "coordinates": [ { "allele": "A", "end": 9545, "referenceAllele": "G", "start": 9544 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.9363G>A" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Trp3121Ter", "hgvsWellDefined": "XP_011542337.1:p.Trp3121_Phe3318delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555478" }, { "coordinates": [ { "allele": "A", "end": 7199, "referenceAllele": "G", "start": 7198 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.7026G>A" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Trp2342Ter", "hgvsWellDefined": "XP_011542338.1:p.Trp2342_Gly3076delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555479" }, { "coordinates": [ { "allele": "A", "end": 9545, "referenceAllele": "G", "start": 9544 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.9363G>A" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Trp3121Ter", "hgvsWellDefined": "XP_016855639.1:p.Trp3121_Gly3778delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "A", "end": 10236, "referenceAllele": "G", "start": 10235 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.10236G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "@id": "http://reg.genome.network/allele/PA2825050190", "coordinates": [ { "allele": "A", "end": 9362, "referenceAllele": "G", "start": 9361 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.9201G>A" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Trp3067Ter", "hgvsWellDefined": "NP_000072.2:p.Trp3067_Gly3801delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.9201G>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.9201G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Trp3067Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Trp3067Ter" } } } } ], "type": "nucleotide" }