{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA339878", "communityStandardTitle": [ "NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16215[alleleid]", "alleleId": 16215, "preferredName": "NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1176", "RCV": [ "RCV000001235" ], "variationId": 1176 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143960496C>T?assembly=hg19", "id": "chr8:g.143960496C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.142879080C>T?assembly=hg38", "id": "chr8:g.142879080C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104894066", "rs": 104894066 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 142879080, "referenceAllele": "C", "start": 142879079 } ], "hgvs": [ "NC_000008.11:g.142879080C>T", "CM000670.2:g.142879080C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 143960496, "referenceAllele": "C", "start": 143960495 } ], "hgvs": [ "NC_000008.10:g.143960496C>T", "CM000670.1:g.143960496C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 143957498, "referenceAllele": "C", "start": 143957497 } ], "hgvs": [ "NC_000008.9:g.143957498C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 5741, "referenceAllele": "G", "start": 5740 } ], "hgvs": [ "NG_007954.1:g.5741G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000722" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "ENST00000292427.10:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000292427.5:p.Trp116Ter", "hgvsWellDefined": "ENSP00000292427.5:p.Trp116_Asn503delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744115", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000292427.10:c.347G>A" }, "RefSeq": { "hgvs": "NM_000497.4:c.347G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000292427.5:p.Trp116Ter" }, "RefSeq": { "hgvs": "NP_000488.3:p.Trp116Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 380, "referenceAllele": "G", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "ENST00000292427.8:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000292427.4:p.Trp116Ter", "hgvsWellDefined": "ENSP00000292427.4:p.Trp116_Asn503delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253807" }, { "coordinates": [ { "allele": "A", "end": 380, "referenceAllele": "G", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "ENST00000314111.4:n.380G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS256901" }, { "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "G", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "ENST00000377675.3:c.482G>A" ], "proteinEffect": { "hgvs": "ENSP00000366903.3:p.Trp161Ter", "hgvsWellDefined": "ENSP00000366903.3:p.Trp161_Asn574delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnValAlaAspArgGlyAsnSerSerProProPheProGlyGlyIleHisGlyAlaProThrHisSerGlyCysArgAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271686" }, { "coordinates": [ { "allele": "A", "end": 358, "referenceAllele": "G", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "ENST00000517471.5:c.347G>A" ], "proteinEffect": { "hgvs": "ENSP00000428043.1:p.Trp116Ter", "hgvsWellDefined": "ENSP00000428043.1:p.Trp116_Asn437delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS345146" }, { "coordinates": [ { "allele": "T", "end": 246, "endIntronDirection": "-", "endIntronOffset": 34882, "referenceAllele": "C", "start": 246, "startIntronDirection": "-", "startIntronOffset": 34883 } ], "gene": "http://reg.genome.network/gene/GN004375", "geneNCBI_id": 2765, "geneSymbol": "GML", "hgvs": [ "ENST00000522728.5:c.182-34883C>T" ], "proteinEffect": { "hgvs": "ENSP00000430799.1:n.182-34883C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS349279" }, { "@id": "http://reg.genome.network/allele/PA339879", "coordinates": [ { "allele": "A", "end": 354, "referenceAllele": "G", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "NM_000497.3:c.347G>A" ], "proteinEffect": { "hgvs": "NP_000488.3:p.Trp116Ter", "hgvsWellDefined": "NP_000488.3:p.Trp116_Asn503delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006551" }, { "@id": "http://reg.genome.network/allele/PA915957293", "coordinates": [ { "allele": "A", "end": 354, "referenceAllele": "G", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "NM_001026213.1:c.347G>A" ], "proteinEffect": { "hgvs": "NP_001021384.1:p.Trp116Ter", "hgvsWellDefined": "NP_001021384.1:p.Trp116_Asn437delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008905" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "XM_011516870.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_011515172.1:p.Trp116Ter", "hgvsWellDefined": "XP_011515172.1:p.Trp116_Ser615delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnValAlaAspArgGlyAsnSerSerProProPheProGlyGlyIleHisGlyAlaProThrHisSerGlyCysArgAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLysGlyAlaGluSerThrGlySerProIleGlnLeuArgThrLeuSerMetAspAlaProThrSerArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisHisAsnLeuCysAsnPheGluGlyLeuArgArgLeuHisHisValHisGlyLeuArgThrLysProAspGlyAsnProAlaSerValLeuGlyAlaGluThrProProGlyGlyAspThrAsnProArgGlyHisLysAspGlyLeuGlnLeuHisIleGluAlaGlnHisValProProProHisLeuGlnSerHisGlnLeuIleThrSerLeuHisProGlySerGlnProGlyHisGlnProProPheLeuProAspProArgProProLeuPheSerProThrCysThrAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084069" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "XM_011516871.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_011515173.1:p.Trp116Ter", "hgvsWellDefined": "XP_011515173.1:p.Trp116_Ser592delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnValAlaAspArgGlyAsnSerSerProProPheProGlyGlyIleHisGlyAlaProThrHisSerGlyCysArgAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisHisAsnLeuCysAsnPheGluGlyLeuArgArgLeuHisHisValHisGlyLeuArgThrLysProAspGlyAsnProAlaSerValLeuGlyAlaGluThrProProGlyGlyAspThrAsnProArgGlyHisLysAspGlyLeuGlnLeuHisIleGluAlaGlnHisValProProProHisLeuGlnSerHisGlnLeuIleThrSerLeuHisProGlySerGlnProGlyHisGlnProProPheLeuProAspProArgProProLeuPheSerProThrCysThrAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084070" }, { "coordinates": [ { "allele": "A", "end": 380, "referenceAllele": "G", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "XM_011516872.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_011515174.1:p.Trp116Ter", "hgvsWellDefined": "XP_011515174.1:p.Trp116_Ser589delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLysGlyAlaGluSerThrGlySerProIleGlnLeuArgThrLeuSerMetAspAlaProThrSerArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisHisAsnLeuCysAsnPheGluGlyLeuArgArgLeuHisHisValHisGlyLeuArgThrLysProAspGlyAsnProAlaSerValLeuGlyAlaGluThrProProGlyGlyAspThrAsnProArgGlyHisLysAspGlyLeuGlnLeuHisIleGluAlaGlnHisValProProProHisLeuGlnSerHisGlnLeuIleThrSerLeuHisProGlySerGlnProGlyHisGlnProProPheLeuProAspProArgProProLeuPheSerProThrCysThrAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084071" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "XM_011516873.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_011515175.1:p.Trp116Ter", "hgvsWellDefined": "XP_011515175.1:p.Trp116_Asn552delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnValAlaAspArgGlyAsnSerSerProProPheProGlyGlyIleHisGlyAlaProThrHisSerGlyCysArgAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLysGlyAlaGluSerThrGlySerProIleGlnLeuArgThrLeuSerMetAspAlaProThrSerArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084072" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "XM_011516874.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_011515176.1:p.Trp116Ter", "hgvsWellDefined": "XP_011515176.1:p.Trp116_Asn529delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnValAlaAspArgGlyAsnSerSerProProPheProGlyGlyIleHisGlyAlaProThrHisSerGlyCysArgAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084073" }, { "coordinates": [ { "allele": "A", "end": 193, "referenceAllele": "G", "start": 192 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "XM_011516875.1:c.86G>A" ], "proteinEffect": { "hgvs": "XP_011515177.1:p.Trp29Ter", "hgvsWellDefined": "XP_011515177.1:p.Trp29_Ser528delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnValAlaAspArgGlyAsnSerSerProProPheProGlyGlyIleHisGlyAlaProThrHisSerGlyCysArgAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLysGlyAlaGluSerThrGlySerProIleGlnLeuArgThrLeuSerMetAspAlaProThrSerArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisHisAsnLeuCysAsnPheGluGlyLeuArgArgLeuHisHisValHisGlyLeuArgThrLysProAspGlyAsnProAlaSerValLeuGlyAlaGluThrProProGlyGlyAspThrAsnProArgGlyHisLysAspGlyLeuGlnLeuHisIleGluAlaGlnHisValProProProHisLeuGlnSerHisGlnLeuIleThrSerLeuHisProGlySerGlnProGlyHisGlnProProPheLeuProAspProArgProProLeuPheSerProThrCysThrAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084074" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "G", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "XM_011516876.1:c.347G>A" ], "proteinEffect": { "hgvs": "XP_011515178.1:p.Trp116Ter", "hgvsWellDefined": "XP_011515178.1:p.Trp116_Asn486delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnValAlaAspArgGlyAsnSerSerProProPheProGlyGlyIleHisGlyAlaProThrHisSerGlyCysArgAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLysGlyAlaGluSerThrGlySerProIleGlnLeuArgThrLeuSerMetAspAlaProThrSerArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084075" }, { "coordinates": [ { "allele": "T", "end": 443, "endIntronDirection": "-", "endIntronOffset": 34882, "referenceAllele": "C", "start": 443, "startIntronDirection": "-", "startIntronOffset": 34883 } ], "gene": "http://reg.genome.network/gene/GN004375", "geneNCBI_id": 2765, "geneSymbol": "GML", "hgvs": [ "XM_011516970.1:c.215-34883C>T" ], "proteinEffect": { "hgvs": "XP_011515272.1:n.215-34883C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS084169" }, { "@id": "http://reg.genome.network/allele/PA339879", "coordinates": [ { "allele": "A", "end": 359, "referenceAllele": "G", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN002591", "geneNCBI_id": 1584, "geneSymbol": "CYP11B1", "hgvs": [ "NM_000497.4:c.347G>A" ], "proteinEffect": { "hgvs": "NP_000488.3:p.Trp116Ter", "hgvsWellDefined": "NP_000488.3:p.Trp116_Asn503delinsValAlaTyrArgGlnHisArgGlyHisLysCysGlyValPheLeuLeuAsnGlyProGluTrpArgPheAsnArgLeuArgLeuAsnProGluValLeuSerProAsnAlaValGlnArgPheLeuProMetValAspAlaValAlaArgAspPheSerGlnAlaLeuLysLysLysValLeuGlnAsnAlaArgGlySerLeuThrLeuAspValGlnProSerIlePheHisTyrThrIleGluAlaSerAsnLeuAlaLeuPheGlyGluArgLeuGlyLeuValGlyHisSerProSerSerAlaSerLeuAsnPheLeuHisAlaLeuGluValMetPheLysSerThrValGlnLeuMetPheMetProArgSerLeuSerArgTrpThrSerProLysValTrpLysGluHisPheGluAlaTrpAspCysIlePheGlnTyrGlyAspAsnCysIleGlnLysIleTyrGlnGluLeuAlaPheSerArgProGlnGlnTyrThrSerIleValAlaGluLeuLeuLeuAsnAlaGluLeuSerProAspAlaIleLysAlaAsnSerMetGluLeuThrAlaGlySerValAspThrThrValPheProLeuLeuMetThrLeuPheGluLeuAlaArgAsnProAsnValGlnGlnAlaLeuArgGlnGluSerLeuAlaAlaAlaAlaSerIleSerGluHisProGlnLysAlaThrThrGluLeuProLeuLeuArgAlaAlaLeuLysGluThrLeuArgLeuTyrProValGlyLeuPheLeuGluArgValAlaSerSerAspLeuValLeuGlnAsnTyrHisIleProAlaGlyThrLeuValArgValPheLeuTyrSerLeuGlyArgAsnProAlaLeuPheProArgProGluArgTyrAsnProGlnArgTrpLeuAspIleArgGlySerGlyArgAsnPheTyrHisValProPheGlyPheGlyMetArgGlnCysLeuGlyArgArgLeuAlaGluAlaGluMetLeuLeuLeuLeuHisHisValLeuLysHisLeuGlnValGluThrLeuThrGlnGluAspIleLysMetValTyrSerPheIleLeuArgProSerMetPheProLeuLeuThrPheArgAlaIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674869", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000292427.10:c.347G>A" }, "RefSeq": { "hgvs": "NM_000497.4:c.347G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000292427.5:p.Trp116Ter" }, "RefSeq": { "hgvs": "NP_000488.3:p.Trp116Ter" } } } } ], "type": "nucleotide" }