{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA414551722", "communityStandardTitle": [ "NM_000276.4(OCRL):c.643C>T (p.Gln215Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=904883[alleleid]", "alleleId": 904883, "preferredName": "NM_000276.4(OCRL):c.643C>T (p.Gln215Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/916550", "RCV": [ "RCV001172281" ], "variationId": 916550 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.128692899C>T?assembly=hg19", "id": "chrX:g.128692899C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.129558922C>T?assembly=hg38", "id": "chrX:g.129558922C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1936103770", "rs": 1936103770 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 129558922, "referenceAllele": "C", "start": 129558921 } ], "hgvs": [ "NC_000023.11:g.129558922C>T", "CM000685.2:g.129558922C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 128692899, "referenceAllele": "C", "start": 128692898 } ], "hgvs": [ "NC_000023.10:g.128692899C>T", "CM000685.1:g.128692899C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 128520580, "referenceAllele": "C", "start": 128520579 } ], "hgvs": [ "NC_000023.9:g.128520580C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 23648, "referenceAllele": "C", "start": 23647 } ], "hgvs": [ "NG_008638.1:g.23648C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001137" } ], "transcriptAlleles": [ { 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"referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.9:c.643C>T" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Gln215Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS750725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.643C>T" }, "RefSeq": { "hgvs": "NM_000276.4:c.643C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Gln215Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Gln215Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 691, "referenceAllele": "C", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646010.1:c.691C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768650" }, { "coordinates": [ { "allele": "T", "end": 294, "referenceAllele": "C", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000647245.1:c.294C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769311" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000357121.5:c.643C>T" ], "proteinEffect": { "hgvs": "ENSP00000349635.5:p.Gln215Ter", "hgvsWellDefined": "ENSP00000349635.5:p.Gln215_Asp893delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263990" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.8:c.643C>T" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Gln215Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS268420" }, { "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000486673.1:n.885C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS325422" }, { "@id": "http://reg.genome.network/allele/PA2825137576", "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.3:c.643C>T" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Gln215Ter", "hgvsWellDefined": "NP_000267.2:p.Gln215_Asp901delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006338" }, { "@id": "http://reg.genome.network/allele/PA2829331743", "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.3:c.643C>T" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Gln215Ter", "hgvsWellDefined": "NP_001578.2:p.Gln215_Asp893delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026944" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.1:c.172C>T" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Gln58Ter", "hgvsWellDefined": "XP_005262479.1:p.Gln58_Asp744delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063448" }, { "coordinates": [ { "allele": "T", "end": 825, "referenceAllele": "C", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531342.1:c.646C>T" ], "proteinEffect": { "hgvs": "XP_011529644.1:p.Gln216Ter", "hgvsWellDefined": "XP_011529644.1:p.Gln216_Asp902delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098378" }, { "coordinates": [ { "allele": "T", "end": 738, "referenceAllele": "C", "start": 737 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531343.1:c.646C>T" ], "proteinEffect": { "hgvs": "XP_011529645.1:p.Gln216Ter", "hgvsWellDefined": "XP_011529645.1:p.Gln216_Asp894delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098379" }, { "coordinates": [ { "allele": "T", "end": 717, "referenceAllele": "C", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.1:c.499C>T" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Gln167Ter", "hgvsWellDefined": "XP_011529646.1:p.Gln167_Asp853delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098380" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.1:c.499C>T" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Gln167Ter", "hgvsWellDefined": "XP_011529647.1:p.Gln167_Asp853delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098381" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531346.1:c.646C>T" ], "proteinEffect": { "hgvs": "XP_011529648.1:p.Gln216Ter", "hgvsWellDefined": "XP_011529648.1:p.Gln216_Arg832delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098382" }, { "@id": "http://reg.genome.network/allele/PA1139687463", "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.1:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Gln216Ter", "hgvsWellDefined": "NP_001305713.1:p.Gln216_Asp902delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513020" }, { "coordinates": [ { "allele": "T", "end": 615, "referenceAllele": "C", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.2:c.172C>T" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Gln58Ter", "hgvsWellDefined": "XP_005262479.1:p.Gln58_Asp744delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535480" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.3:c.499C>T" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Gln167Ter", "hgvsWellDefined": "XP_011529646.1:p.Gln167_Asp853delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550338" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.3:c.499C>T" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Gln167Ter", "hgvsWellDefined": "XP_011529647.1:p.Gln167_Asp853delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550339" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "C", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_017029554.1:c.643C>T" ], "proteinEffect": { "hgvs": "XP_016885043.1:p.Gln215Ter", "hgvsWellDefined": "XP_016885043.1:p.Gln215_Arg831delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579074" }, { "@id": "http://reg.genome.network/allele/PA2825137576", "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.4:c.643C>T" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Gln215Ter", "hgvsWellDefined": "NP_000267.2:p.Gln215_Asp901delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662380", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.643C>T" }, "RefSeq": { "hgvs": "NM_000276.4:c.643C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Gln215Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Gln215Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139687463", "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "C", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.2:c.646C>T" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Gln216Ter", "hgvsWellDefined": "NP_001305713.1:p.Gln216_Asp902delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684598" }, { "@id": "http://reg.genome.network/allele/PA2829331743", "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.4:c.643C>T" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Gln215Ter", "hgvsWellDefined": "NP_001578.2:p.Gln215_Asp893delinsSerGlyGlnArgGluGlyLeuIleLysHisIleLeuAlaLysArgGluLysGluTyrValAsnIleGlnThrPheArgPhePheValGlyThrTrpAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695324" } ], "type": "nucleotide" }