{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344945802", "communityStandardTitle": [ "NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834780[alleleid]", "alleleId": 2834780, "preferredName": "NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676360", "RCV": [ "RCV003461806" ], "variationId": 2676360 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235887443C>T?assembly=hg19", "id": "chr1:g.235887443C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235724143C>T?assembly=hg38", "id": "chr1:g.235724143C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2527475132", "rs": 2527475132 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235724143, "referenceAllele": "C", "start": 235724142 } ], "hgvs": [ "NC_000001.11:g.235724143C>T", "CM000663.2:g.235724143C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235887443, "referenceAllele": "C", "start": 235887442 } ], "hgvs": [ "NC_000001.10:g.235887443C>T", "CM000663.1:g.235887443C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 233954066, "referenceAllele": "C", "start": 233954065 } ], "hgvs": [ "NC_000001.9:g.233954066C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 164498, "referenceAllele": "G", "start": 164497 } ], "hgvs": [ "NG_007397.1:g.164498G>A", "LRG_143:g.164498G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4728, "referenceAllele": "G", "start": 4727 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000461526.2:c.4728G>A" ], "proteinEffect": { "hgvs": "ENSP00000513165.1:n.4728G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905084" }, { "coordinates": [ { "allele": "A", "end": 1295, "referenceAllele": "G", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000475277.2:c.1295G>A" ], "proteinEffect": { "hgvs": "ENSP00000513164.1:p.Trp432Ter", "hgvsWellDefined": "ENSP00000513164.1:p.Trp432_Phe629delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905228" }, { "coordinates": [ { "allele": "A", "end": 9256, "referenceAllele": "G", "start": 9255 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697178.1:c.*4624G>A" ], "proteinEffect": { "hgvs": "ENSP00000513163.1:n.*4624G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908583" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "G", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697236.1:c.2909G>A" ], "proteinEffect": { "hgvs": "ENSP00000513203.1:p.Trp970Ter", "hgvsWellDefined": "ENSP00000513203.1:p.Trp970_Leu1011delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysLysSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908624" }, { "coordinates": [ { "allele": "A", "end": 156, "referenceAllele": "G", "start": 155 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697237.1:c.156G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908625" }, { "coordinates": [ { "allele": "A", "end": 1334, "referenceAllele": "G", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697240.1:c.1334G>A" ], "proteinEffect": { "hgvs": "ENSP00000513205.1:p.Trp445Ter", "hgvsWellDefined": "ENSP00000513205.1:p.Trp445_Met1076delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerGlyArgSerSerValProTrpLeuSerProThrSerLeuArgGluTyrLeuSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908628" }, { "coordinates": [ { "allele": "A", "end": 3680, "referenceAllele": "G", "start": 3679 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697241.1:c.3680G>A" ], "proteinEffect": { "hgvs": "ENSP00000513206.1:p.Trp1227Ter", "hgvsWellDefined": "ENSP00000513206.1:p.Trp1227_Val1408del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908629" }, { "coordinates": [ { "allele": "A", "end": 9361, "referenceAllele": "G", "start": 9360 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.7:c.9200G>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.9200G>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.9200G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Trp3067Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Trp3067Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 9375, "referenceAllele": "G", "start": 9374 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.6:c.9200G>A" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Trp3067Ter", "hgvsWellDefined": "ENSP00000374443.2:p.Trp3067_Gly3801delinsThrTyrGluGluIleLysGluValHisLysArgTrpTrpGlnLeuArgAspAsnAlaValGluIlePheLeuThrAsnGlyArgThrLeuLeuLeuAlaPheAspAsnThrLysValArgAspAspValTyrHisAsnIleLeuThrAsnAsnLeuProAsnLeuLeuGluTyrGlyAsnIleThrAlaLeuThrAsnLeuTrpTyrThrGlyGlnIleThrAsnPheGluTyrLeuThrHisLeuAsnLysHisAlaGlyArgSerPheAsnAspLeuMetGlnTyrProValPheProPheIleLeuAlaAspTyrValSerGluThrLeuAspLeuAsnAspLeuLeuIleTyrArgAsnLeuSerLysProIleAlaValGlnTyrLysGluLysGluAspArgTyrValAspThrTyrLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274290" }, { "coordinates": [ { "allele": "A", "end": 8952, "referenceAllele": "G", "start": 8951 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389794.7:c.*4624G>A" ], "proteinEffect": { "hgvs": "ENSP00000374444.4:n.*4624G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS274291" }, { "coordinates": [ { "allele": "A", "end": 4190, "referenceAllele": "G", "start": 4189 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000473037.5:n.4190G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314875" }, { "coordinates": [ { "allele": "A", "end": 66, "referenceAllele": "G", "start": 65 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000475277.1:n.66G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316594" }, { "@id": "http://reg.genome.network/allele/PA2825050190", "coordinates": [ { "allele": "A", "end": 9382, "referenceAllele": "G", "start": 9381 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.3:c.9200G>A", "LRG_143t1:c.9200G>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": 9819, "referenceAllele": "G", "start": 9818 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_001301365.1:c.9200G>A", "LRG_143t2:c.9200G>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": 9544, "referenceAllele": "G", "start": 9543 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544031.1:c.9362G>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": 9947, "referenceAllele": "G", "start": 9946 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544032.1:c.9362G>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": 9745, "referenceAllele": "G", "start": 9744 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.1:c.9362G>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": 9406, "referenceAllele": "G", "start": 9405 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544034.1:c.9224G>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": 9544, "referenceAllele": "G", "start": 9543 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.1:c.9362G>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": 7189, "referenceAllele": "G", "start": 7188 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.1:c.7025G>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": 9694, "referenceAllele": "G", "start": 9693 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.9362G>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": 9544, "referenceAllele": "G", "start": 9543 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.9362G>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": 7198, "referenceAllele": "G", "start": 7197 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.7025G>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": 9544, "referenceAllele": "G", "start": 9543 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.9362G>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": 10235, "referenceAllele": "G", "start": 10234 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.10235G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "@id": "http://reg.genome.network/allele/PA2825050190", "coordinates": [ { "allele": "A", "end": 9361, "referenceAllele": "G", "start": 9360 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.9200G>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.9200G>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.9200G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Trp3067Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Trp3067Ter" } } } } ], "type": "nucleotide" }