{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA344940775", "communityStandardTitle": [ "NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2832675[alleleid]", "alleleId": 2832675, "preferredName": "NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2676378", "RCV": [ "RCV003461814" ], "variationId": 2676378 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235880015G>T?assembly=hg19", "id": "chr1:g.235880015G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.235716715G>T?assembly=hg38", "id": "chr1:g.235716715G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/745358946", "rs": 745358946 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-235716715-G-T?dataset=gnomad_r4", "id": "1-235716715-G-T", "variant": "1:235716715 G / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235716715, "referenceAllele": "G", "start": 235716714 } ], "hgvs": [ "NC_000001.11:g.235716715G>T", "CM000663.2:g.235716715G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 235880015, "referenceAllele": "G", "start": 235880014 } ], "hgvs": [ "NC_000001.10:g.235880015G>T", "CM000663.1:g.235880015G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 233946638, "referenceAllele": "G", "start": 233946637 } ], "hgvs": [ "NC_000001.9:g.233946638G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 171926, "referenceAllele": "C", "start": 171925 } ], "hgvs": [ "NG_007397.1:g.171926C>A", "LRG_143:g.171926C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5152, "referenceAllele": "C", "start": 5151 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000461526.2:c.5152C>A" ], "proteinEffect": { "hgvs": "ENSP00000513165.1:n.5152C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905084" }, { "coordinates": [ { "allele": "A", "end": 1719, "referenceAllele": "C", "start": 1718 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000475277.2:c.1719C>A" ], "proteinEffect": { "hgvs": "ENSP00000513164.1:p.Tyr573Ter", "hgvsWellDefined": "ENSP00000513164.1:p.Tyr573_Phe629delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905228" }, { "coordinates": [ { "allele": "A", "end": 9951, "referenceAllele": "C", "start": 9950 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697178.1:c.*5319C>A" ], "proteinEffect": { "hgvs": "ENSP00000513163.1:n.*5319C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908583" }, { "coordinates": [ { "allele": "A", "end": 174, "referenceAllele": "C", "start": 173 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697235.1:c.174C>A" ], "proteinEffect": { "hgvs": "ENSP00000513202.1:p.Tyr58Ter", "hgvsWellDefined": "ENSP00000513202.1:p.Tyr58_Gly651delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908623" }, { "coordinates": [ { "allele": "A", "end": 3088, "referenceAllele": "C", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697236.1:c.3088C>A" ], "proteinEffect": { "hgvs": "ENSP00000513203.1:n.3088C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908624" }, { "coordinates": [ { "allele": "A", "end": 580, "referenceAllele": "C", "start": 579 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697237.1:c.580C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908625" }, { "coordinates": [ { "allele": "A", "end": 1758, "referenceAllele": "C", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697240.1:c.1758C>A" ], "proteinEffect": { "hgvs": "ENSP00000513205.1:p.Tyr586Ter", "hgvsWellDefined": "ENSP00000513205.1:p.Tyr586_Met1076delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerGlyArgSerSerValProTrpLeuSerProThrSerLeuArgGluTyrLeuSerMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908628" }, { "coordinates": [ { "allele": "A", "end": 4104, "referenceAllele": "C", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000697241.1:c.4104C>A" ], "proteinEffect": { "hgvs": "ENSP00000513206.1:p.Tyr1368Ter", "hgvsWellDefined": "ENSP00000513206.1:p.Tyr1368_Val1408del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908629" }, { "coordinates": [ { "allele": "A", "end": 9785, "referenceAllele": "C", "start": 9784 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.7:c.9624C>A" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Tyr3208Ter", "hgvsWellDefined": "ENSP00000374443.2:p.Tyr3208_Gly3801delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752840", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.9624C>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.9624C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Tyr3208Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Tyr3208Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 9799, "referenceAllele": "C", "start": 9798 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389793.6:c.9624C>A" ], "proteinEffect": { "hgvs": "ENSP00000374443.2:p.Tyr3208Ter", "hgvsWellDefined": "ENSP00000374443.2:p.Tyr3208_Gly3801delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274290" }, { "coordinates": [ { "allele": "A", "end": 9376, "referenceAllele": "C", "start": 9375 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000389794.7:c.*5048C>A" ], "proteinEffect": { "hgvs": "ENSP00000374444.4:n.*5048C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS274291" }, { "coordinates": [ { "allele": "A", "end": 4614, "referenceAllele": "C", "start": 4613 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000473037.5:n.4614C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314875" }, { "coordinates": [ { "allele": "A", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "ENST00000475277.1:n.490C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316594" }, { "@id": "http://reg.genome.network/allele/PA2825050304", "coordinates": [ { "allele": "A", "end": 9806, "referenceAllele": "C", "start": 9805 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.3:c.9624C>A", "LRG_143t1:c.9624C>A" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Tyr3208Ter", "hgvsWellDefined": "NP_000072.2:p.Tyr3208_Gly3801delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006145" }, { "@id": "http://reg.genome.network/allele/PA2741854211", "coordinates": [ { "allele": "A", "end": 10243, "referenceAllele": "C", "start": 10242 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_001301365.1:c.9624C>A", "LRG_143t2:c.9624C>A" ], "proteinEffect": { "hgvs": "NP_001288294.1:p.Tyr3208Ter", "hgvsWellDefined": "NP_001288294.1:p.Tyr3208_Gly3801delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025192" }, { "coordinates": [ { "allele": "A", "end": 9968, "referenceAllele": "C", "start": 9967 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544031.1:c.9786C>A" ], "proteinEffect": { "hgvs": "XP_011542333.1:p.Tyr3262Ter", "hgvsWellDefined": "XP_011542333.1:p.Tyr3262_Gly3855delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110944" }, { "coordinates": [ { "allele": "A", "end": 10371, "referenceAllele": "C", "start": 10370 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544032.1:c.9786C>A" ], "proteinEffect": { "hgvs": "XP_011542334.1:p.Tyr3262Ter", "hgvsWellDefined": "XP_011542334.1:p.Tyr3262_Gly3855delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110945" }, { "coordinates": [ { "allele": "A", "end": 10169, "referenceAllele": "C", "start": 10168 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.1:c.9786C>A" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Tyr3262Ter", "hgvsWellDefined": "XP_011542335.1:p.Tyr3262_Gly3855delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110946" }, { "coordinates": [ { "allele": "A", "end": 9830, "referenceAllele": "C", "start": 9829 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544034.1:c.9648C>A" ], "proteinEffect": { "hgvs": "XP_011542336.1:p.Tyr3216Ter", "hgvsWellDefined": "XP_011542336.1:p.Tyr3216_Gly3809delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110947" }, { "coordinates": [ { "allele": "A", "end": 9968, "referenceAllele": "C", "start": 9967 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.1:c.9786C>A" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Tyr3262Ter", "hgvsWellDefined": "XP_011542337.1:p.Tyr3262_Phe3318delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110948" }, { "coordinates": [ { "allele": "A", "end": 7613, "referenceAllele": "C", "start": 7612 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.1:c.7449C>A" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Tyr2483Ter", "hgvsWellDefined": "XP_011542338.1:p.Tyr2483_Gly3076delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110949" }, { "coordinates": [ { "allele": "A", "end": 10118, "referenceAllele": "C", "start": 10117 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544033.2:c.9786C>A" ], "proteinEffect": { "hgvs": "XP_011542335.1:p.Tyr3262Ter", "hgvsWellDefined": "XP_011542335.1:p.Tyr3262_Gly3855delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555477" }, { "coordinates": [ { "allele": "A", "end": 9968, "referenceAllele": "C", "start": 9967 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544035.2:c.9786C>A" ], "proteinEffect": { "hgvs": "XP_011542337.1:p.Tyr3262Ter", "hgvsWellDefined": "XP_011542337.1:p.Tyr3262_Phe3318delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555478" }, { "coordinates": [ { "allele": "A", "end": 7622, "referenceAllele": "C", "start": 7621 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_011544036.2:c.7449C>A" ], "proteinEffect": { "hgvs": "XP_011542338.1:p.Tyr2483Ter", "hgvsWellDefined": "XP_011542338.1:p.Tyr2483_Gly3076delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555479" }, { "coordinates": [ { "allele": "A", "end": 9968, "referenceAllele": "C", "start": 9967 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XM_017000150.1:c.9786C>A" ], "proteinEffect": { "hgvs": "XP_016855639.1:p.Tyr3262Ter", "hgvsWellDefined": "XP_016855639.1:p.Tyr3262_Gly3778delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS556567" }, { "coordinates": [ { "allele": "A", "end": 10659, "referenceAllele": "C", "start": 10658 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "XR_001736947.1:n.10659C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587795" }, { "@id": "http://reg.genome.network/allele/PA2825050304", "coordinates": [ { "allele": "A", "end": 9785, "referenceAllele": "C", "start": 9784 } ], "gene": "http://reg.genome.network/gene/GN001968", "geneNCBI_id": 1130, "geneSymbol": "LYST", "hgvs": [ "NM_000081.4:c.9624C>A" ], "proteinEffect": { "hgvs": "NP_000072.2:p.Tyr3208Ter", "hgvsWellDefined": "NP_000072.2:p.Tyr3208_Gly3801delinsLysTyrLeuGluGluGluTyrArgLysGlyAlaArgGluAspAspProMetProProValGlnProTyrHisTyrGlySerHisTyrSerAsnSerGlyThrValLeuHisPheLeuValArgMetProProPheThrLysMetPheLeuAlaTyrGlnAspGlnSerPheAspIleProAspArgThrPheHisSerThrAsnThrThrTrpArgLeuSerSerPheGluSerMetThrAspValLysGluLeuIleProGluPhePheTyrLeuProGluPheLeuValAsnArgGluGlyPheAspPheGlyValArgGlnAsnGlyGluArgValAsnHisValAsnLeuProProTrpAlaArgAsnAspProArgLeuPheIleLeuIleHisArgGlnAlaLeuGluSerAspTyrValSerGlnAsnIleCysGlnTrpIleAspLeuValPheGlyTyrLysGlnLysGlyLysAlaSerValGlnAlaIleAsnValPheHisProAlaThrTyrPheGlyMetAspValSerAlaValGluAspProValGlnArgArgAlaLeuGluThrMetIleLysThrTyrGlyGlnThrProArgGlnLeuPheHisMetAlaHisValSerArgProGlyAlaLysLeuAsnIleGluGlyGluLeuProAlaAlaValGlyLeuLeuValGlnPheAlaPheArgGluThrArgGluGlnValLysGluIleThrTyrProSerProLeuSerTrpIleLysGlyLeuLysTrpGlyGluTyrValGlySerProSerAlaProValProValValCysPheSerGlnProHisGlyGluArgPheGlySerLeuGlnAlaLeuProThrArgAlaIleCysGlyLeuSerArgAsnPheCysLeuLeuMetThrTyrSerLysGluGlnGlyValArgSerMetAsnSerThrAspIleGlnTrpSerAlaIleLeuSerTrpGlyTyrAlaAspAsnIleLeuArgLeuLysSerLysGlnSerGluProProValAsnPheIleGlnSerSerGlnGlnTyrGlnValThrSerCysAlaTrpValProAspSerCysGlnLeuPheThrGlySerLysCysGlyValIleThrAlaTyrThrAsnArgPheThrSerSerThrProSerGluIleGluMetGluThrGlnIleHisLeuTyrGlyHisThrGluGluIleThrSerLeuPheValCysLysProTyrSerIleLeuIleSerValSerArgAspGlyThrCysIleIleTrpAspLeuAsnArgLeuCysTyrValGlnSerLeuAlaGlyHisLysSerProValThrAlaValSerAlaSerGluThrSerGlyAspIleAlaThrValCysAspSerAlaGlyGlyGlySerAspLeuArgLeuTrpThrValAsnGlyAspLeuValGlyHisValHisCysArgGluIleIleCysSerValAlaPheSerAsnGlnProGluGlyValSerIleAsnValIleAlaGlyGlyLeuGluAsnGlyIleValArgLeuTrpSerThrTrpAspLeuLysProValArgGluIleThrPheProLysSerAsnLysProIleIleSerLeuThrPheSerCysAspGlyHisHisLeuTyrThrAlaAsnSerAspGlyThrValIleAlaTrpCysArgLysAspGlnGlnArgLeuLysGlnProMetPheTyrSerPheLeuSerSerTyrAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674690", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389793.7:c.9624C>A" }, "RefSeq": { "hgvs": "NM_000081.4:c.9624C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374443.2:p.Tyr3208Ter" }, "RefSeq": { "hgvs": "NP_000072.2:p.Tyr3208Ter" } } } } ], "type": "nucleotide" }