{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16043754", "communityStandardTitle": [ "NM_000103.4(CYP19A1):c.201G>A (p.Trp67Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361363[alleleid]", "alleleId": 361363, "preferredName": "NM_000103.4(CYP19A1):c.201G>A (p.Trp67Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374477", "RCV": [ "RCV000415789" ], "variationId": 374477 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.51529151C>T?assembly=hg19", "id": "chr15:g.51529151C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.51236954C>T?assembly=hg38", "id": "chr15:g.51236954C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519118", "rs": 1057519118 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 51236954, "referenceAllele": "C", "start": 51236953 } ], "hgvs": [ "NC_000015.10:g.51236954C>T", "CM000677.2:g.51236954C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 51529151, "referenceAllele": "C", "start": 51529150 } ], "hgvs": [ "NC_000015.9:g.51529151C>T", "CM000677.1:g.51529151C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 49316443, "referenceAllele": "C", "start": 49316442 } ], "hgvs": [ "NC_000015.8:g.49316443C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 106645, "referenceAllele": "G", "start": 106644 } ], "hgvs": [ "NG_007982.1:g.106645G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000750" } ], "transcriptAlleles": [ { 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"ENSP00000379683.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" 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"ENSP00000379685.4:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277260" }, { "coordinates": [ { "allele": "A", "end": 497, "referenceAllele": "G", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "ENST00000405011.6:c.201G>A" ], "proteinEffect": { "hgvs": "ENSP00000384389.2:p.Trp67Ter", "hgvsWellDefined": "ENSP00000384389.2:p.Trp67_Glu166del" }, "referenceSequence": "http://reg.genome.network/refseq/RS280227" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "ENST00000405913.7:c.201G>A" ], "proteinEffect": { "hgvs": "ENSP00000383930.3:p.Trp67Ter", "hgvsWellDefined": "ENSP00000383930.3:p.Trp67_Ser218delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGlyThrGluIlePheThrLeuThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS280476" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "G", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "ENST00000439712.6:c.201G>A" ], "proteinEffect": { "hgvs": "ENSP00000390614.2:p.Trp67Ter", "hgvsWellDefined": "ENSP00000390614.2:p.Trp67_Lys352del" }, "referenceSequence": "http://reg.genome.network/refseq/RS295566" }, { "coordinates": 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"ENSP00000452627.1:p.Trp67_Ser218delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGlyThrGluIlePheThrLeuThrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373364" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "ENST00000557934.5:c.201G>A" ], "proteinEffect": { "hgvs": "ENSP00000454004.1:p.Trp67Ter", "hgvsWellDefined": "ENSP00000454004.1:p.Trp67_Lys352del" }, "referenceSequence": "http://reg.genome.network/refseq/RS373423" }, { "coordinates": [ { "allele": "A", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "ENST00000558328.5:c.201G>A" ], "proteinEffect": { "hgvs": "ENSP00000453280.1:p.Trp67Ter", "hgvsWellDefined": "ENSP00000453280.1:p.Trp67Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS373717" }, { "coordinates": [ { "allele": "A", "end": 299, "referenceAllele": "G", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "ENST00000559646.1:c.201G>A" ], "proteinEffect": { "hgvs": "ENSP00000453318.1:p.Trp67Ter", "hgvsWellDefined": "ENSP00000453318.1:p.Trp67_Ala165del" }, "referenceSequence": "http://reg.genome.network/refseq/RS374747" }, { "coordinates": [ { "allele": "A", "end": 353, "referenceAllele": "G", "start": 352 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "ENST00000559878.5:c.201G>A" ], "proteinEffect": { "hgvs": "ENSP00000453149.1:p.Trp67Ter", "hgvsWellDefined": "ENSP00000453149.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374929" }, { "coordinates": [ { "allele": "A", "end": 678, "referenceAllele": "G", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "ENST00000559980.5:c.201G>A" ], "proteinEffect": { "hgvs": "ENSP00000452872.1:p.Trp67Ter", "hgvsWellDefined": "ENSP00000452872.1:p.Trp67_Leu172del" }, "referenceSequence": "http://reg.genome.network/refseq/RS375004" }, { "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "ENST00000561075.5:c.201G>A" ], "proteinEffect": { "hgvs": "ENSP00000454039.1:p.Trp67Ter", "hgvsWellDefined": "ENSP00000454039.1:p.Trp67_Met244del" }, "referenceSequence": "http://reg.genome.network/refseq/RS375833" }, { "@id": "http://reg.genome.network/allele/PA2825068880", "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "G", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_000103.3:c.201G>A" ], "proteinEffect": { "hgvs": "NP_000094.2:p.Trp67Ter", "hgvsWellDefined": "NP_000094.2:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006167" }, { "@id": "http://reg.genome.network/allele/PA645492540", "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "G", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_031226.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_112503.1:p.Trp67Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS038553" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "XM_005254190.1:c.201G>A" ], "proteinEffect": { "hgvs": "XP_005254247.1:p.Trp67Ter", "hgvsWellDefined": "XP_005254247.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060544" }, { "coordinates": [ { "allele": "A", "end": 300, "referenceAllele": "G", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "XM_005254191.1:c.201G>A" ], "proteinEffect": { "hgvs": "XP_005254248.1:p.Trp67Ter", "hgvsWellDefined": "XP_005254248.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060545" }, { "coordinates": [ { "allele": "T", "end": 98, "endIntronDirection": "-", "endIntronOffset": 41028, "referenceAllele": "C", "start": 98, "startIntronDirection": "-", "startIntronOffset": 41029 } ], "gene": "http://reg.genome.network/gene/GN037570", "geneNCBI_id": 100313865, "geneSymbol": "PIRC66", "hgvs": [ "XR_932222.1:n.99-41029C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128247" }, { "@id": "http://reg.genome.network/allele/PA2827397284", "coordinates": [ { "allele": "A", "end": 348, "referenceAllele": "G", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347248.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334177.1:p.Trp67Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS517771" }, { "@id": "http://reg.genome.network/allele/PA2827397532", "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347249.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334178.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334178.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517772" }, { "@id": "http://reg.genome.network/allele/PA2827397780", "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347250.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334179.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334179.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517773" }, { "@id": "http://reg.genome.network/allele/PA2827398028", "coordinates": [ { "allele": "A", "end": 340, "referenceAllele": "G", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347251.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334180.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334180.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517774" }, { "@id": "http://reg.genome.network/allele/PA2827398276", "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347252.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334181.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334181.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517775" }, { "@id": "http://reg.genome.network/allele/PA2827398524", "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347253.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334182.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334182.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517776" }, { "@id": "http://reg.genome.network/allele/PA2827398772", "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "G", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347254.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334183.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334183.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517777" }, { "@id": "http://reg.genome.network/allele/PA2827399020", "coordinates": [ { "allele": "A", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347255.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334184.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334184.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517778" }, { "@id": "http://reg.genome.network/allele/PA2827399268", "coordinates": [ { "allele": "A", "end": 323, "referenceAllele": "G", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347256.1:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334185.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334185.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517779" }, { "coordinates": [ { "allele": "T", "end": 194, "endIntronDirection": "-", "endIntronOffset": 41028, "referenceAllele": "C", "start": 194, "startIntronDirection": "-", "startIntronOffset": 41029 } ], "gene": "http://reg.genome.network/gene/GN053124", "geneNCBI_id": 109729174, "geneSymbol": "MIR4713HG", "hgvs": [ "NR_146310.1:n.195-41029C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530038" }, { "@id": "http://reg.genome.network/allele/PA2825068880", "coordinates": [ { "allele": "A", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_000103.4:c.201G>A" ], "proteinEffect": { "hgvs": "NP_000094.2:p.Trp67Ter", "hgvsWellDefined": "NP_000094.2:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674702", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396402.6:c.201G>A" }, "RefSeq": { "hgvs": "NM_000103.4:c.201G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379683.1:p.Trp67Ter" }, "RefSeq": { "hgvs": "NP_000094.2:p.Trp67Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827397532", "coordinates": [ { "allele": "A", "end": 304, "referenceAllele": "G", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347249.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334178.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334178.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687463" }, { "@id": "http://reg.genome.network/allele/PA2827399020", "coordinates": [ { "allele": "A", "end": 433, "referenceAllele": "G", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347255.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334184.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334184.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687464" }, { "@id": "http://reg.genome.network/allele/PA2827399268", "coordinates": [ { "allele": "A", "end": 318, "referenceAllele": "G", "start": 317 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347256.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334185.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334185.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687465" }, { "@id": "http://reg.genome.network/allele/PA645492540", "coordinates": [ { "allele": "A", "end": 450, "referenceAllele": "G", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_031226.3:c.201G>A" ], "proteinEffect": { "hgvs": "NP_112503.1:p.Trp67Ter", "hgvsWellDefined": "NP_112503.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698921" }, { "@id": "http://reg.genome.network/allele/PA2827397780", "coordinates": [ { "allele": "A", "end": 328, "referenceAllele": "G", "start": 327 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347250.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334179.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334179.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719041" }, { "@id": "http://reg.genome.network/allele/PA2827398028", "coordinates": [ { "allele": "A", "end": 340, "referenceAllele": "G", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347251.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334180.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334180.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719042" }, { "@id": "http://reg.genome.network/allele/PA2827398276", "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347252.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334181.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334181.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719043" }, { "@id": "http://reg.genome.network/allele/PA2827398524", "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "G", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347253.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334182.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334182.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719044" }, { "@id": "http://reg.genome.network/allele/PA2827398772", "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "G", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN002594", "geneNCBI_id": 1588, "geneSymbol": "CYP19A1", "hgvs": [ "NM_001347254.2:c.201G>A" ], "proteinEffect": { "hgvs": "NP_001334183.1:p.Trp67Ter", "hgvsWellDefined": "NP_001334183.1:p.Trp67_His503delinsMetGlyIleGlySerAlaCysAsnTyrTyrAsnArgValTyrGlyGluPheMetArgValTrpIleSerGlyGluGluThrLeuIleIleSerLysSerSerSerMetPheHisIleMetLysHisAsnHisTyrSerSerArgPheGlySerLysLeuGlyLeuGlnCysIleGlyMetHisGluLysGlyIleIlePheAsnAsnAsnProGluLeuTrpLysThrThrArgProPhePheMetLysAlaLeuSerGlyProGlyLeuValArgMetValThrValCysAlaGluSerLeuLysThrHisLeuAspArgLeuGluGluValThrAsnGluSerGlyTyrValAspValLeuThrLeuLeuArgArgValMetLeuAspThrSerAsnThrLeuPheLeuArgIleProLeuAspGluSerAlaIleValValLysIleGlnGlyTyrPheAspAlaTrpGlnAlaLeuLeuIleLysProAspIlePhePheLysIleSerTrpLeuTyrLysLysTyrGluLysSerValLysAspLeuLysAspAlaIleGluValLeuIleAlaGluLysArgArgArgIleSerThrGluGluLysLeuGluGluCysMetAspPheAlaThrGluLeuIleLeuAlaGluLysArgGlyAspLeuThrArgGluAsnValAsnGlnCysIleLeuGluMetLeuIleAlaAlaProAspThrMetSerValSerLeuPhePheMetLeuPheLeuIleAlaLysHisProAsnValGluGluAlaIleIleLysGluIleGlnThrValIleGlyGluArgAspIleLysIleAspAspIleGlnLysLeuLysValMetGluAsnPheIleTyrGluSerMetArgTyrGlnProValValAspLeuValMetArgLysAlaLeuGluAspAspValIleAspGlyTyrProValLysLysGlyThrAsnIleIleLeuAsnIleGlyArgMetHisArgLeuGluPhePheProLysProAsnGluPheThrLeuGluAsnPheAlaLysAsnValProTyrArgTyrPheGlnProPheGlyPheGlyProArgGlyCysAlaGlyLysTyrIleAlaMetValMetMetLysAlaIleLeuValThrLeuLeuArgArgPheHisValLysThrLeuGlnGlyGlnCysValGluSerIleGlnLysIleHisAspLeuSerLeuHisProAspGluThrLysAsnMetLeuGluMetIlePheThrProArgAsnSerAspArgCysLeuGluHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS719045" } ], "type": "nucleotide" }