{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA414551955", "communityStandardTitle": [ "NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=861601[alleleid]", "alleleId": 861601, "preferredName": "NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/873459", "RCV": [ "RCV001095682" ], "variationId": 873459 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.128694545G>A?assembly=hg19", "id": "chrX:g.128694545G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.129560568G>A?assembly=hg38", "id": "chrX:g.129560568G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1936131926", "rs": 1936131926 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 129560568, "referenceAllele": "G", "start": 129560567 } ], "hgvs": [ "NC_000023.11:g.129560568G>A", "CM000685.2:g.129560568G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 128694545, "referenceAllele": "G", "start": 128694544 } ], "hgvs": [ "NC_000023.10:g.128694545G>A", "CM000685.1:g.128694545G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "A", "end": 128522226, "referenceAllele": "G", "start": 128522225 } ], "hgvs": [ "NC_000023.9:g.128522226G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 25294, "referenceAllele": "G", "start": 25293 } ], "hgvs": [ "NG_008638.1:g.25294G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001137" } ], "transcriptAlleles": [ { 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"ENSP00000360154.4:p.Trp247_Asp901delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.741G>A" }, "RefSeq": { "hgvs": "NM_000276.4:c.741G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Trp247Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Trp247Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "G", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646010.1:c.789G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768650" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000647245.1:c.392G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769311" }, { "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "G", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000357121.5:c.741G>A" ], "proteinEffect": { "hgvs": "ENSP00000349635.5:p.Trp247Ter", "hgvsWellDefined": "ENSP00000349635.5:p.Trp247_Asp893delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263990" }, { "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "G", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.8:c.741G>A" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Trp247Ter", "hgvsWellDefined": "ENSP00000360154.4:p.Trp247_Asp901delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268420" }, { "@id": "http://reg.genome.network/allele/PA2825137586", "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "G", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.3:c.741G>A" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Trp247Ter", "hgvsWellDefined": "NP_000267.2:p.Trp247_Asp901delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006338" }, { "@id": "http://reg.genome.network/allele/PA2829331761", "coordinates": [ { "allele": "A", "end": 906, "referenceAllele": "G", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.3:c.741G>A" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Trp247Ter", "hgvsWellDefined": "NP_001578.2:p.Trp247_Asp893delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026944" }, { "coordinates": [ { "allele": "A", "end": 713, "referenceAllele": "G", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.1:c.270G>A" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Trp90Ter", "hgvsWellDefined": "XP_005262479.1:p.Trp90_Asp744delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063448" }, { "coordinates": [ { "allele": "A", "end": 923, "referenceAllele": "G", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531342.1:c.744G>A" ], "proteinEffect": { "hgvs": "XP_011529644.1:p.Trp248Ter", "hgvsWellDefined": "XP_011529644.1:p.Trp248_Asp902delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098378" }, { "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531343.1:c.744G>A" ], "proteinEffect": { "hgvs": "XP_011529645.1:p.Trp248Ter", "hgvsWellDefined": "XP_011529645.1:p.Trp248_Asp894delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098379" }, { "coordinates": [ { "allele": "A", "end": 815, "referenceAllele": "G", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.1:c.597G>A" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Trp199Ter", "hgvsWellDefined": "XP_011529646.1:p.Trp199_Asp853delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098380" }, { "coordinates": [ { "allele": "A", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.1:c.597G>A" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Trp199Ter", "hgvsWellDefined": "XP_011529647.1:p.Trp199_Asp853delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098381" }, { "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "G", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531346.1:c.744G>A" ], "proteinEffect": { "hgvs": "XP_011529648.1:p.Trp248Ter", "hgvsWellDefined": "XP_011529648.1:p.Trp248_Arg832delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098382" }, { "@id": "http://reg.genome.network/allele/PA1139687465", "coordinates": [ { "allele": "A", "end": 929, "referenceAllele": "G", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.1:c.744G>A" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Trp248Ter", "hgvsWellDefined": "NP_001305713.1:p.Trp248_Asp902delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513020" }, { "coordinates": [ { "allele": "A", "end": 713, "referenceAllele": "G", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.2:c.270G>A" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Trp90Ter", "hgvsWellDefined": "XP_005262479.1:p.Trp90_Asp744delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535480" }, { "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "G", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.3:c.597G>A" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Trp199Ter", "hgvsWellDefined": "XP_011529646.1:p.Trp199_Asp853delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550338" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.3:c.597G>A" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Trp199Ter", "hgvsWellDefined": "XP_011529647.1:p.Trp199_Asp853delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550339" }, { "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_017029554.1:c.741G>A" ], "proteinEffect": { "hgvs": "XP_016885043.1:p.Trp247Ter", "hgvsWellDefined": "XP_016885043.1:p.Trp247_Arg831delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579074" }, { "@id": "http://reg.genome.network/allele/PA2825137586", "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.4:c.741G>A" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Trp247Ter", "hgvsWellDefined": "NP_000267.2:p.Trp247_Asp901delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662380", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.741G>A" }, "RefSeq": { "hgvs": "NM_000276.4:c.741G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Trp247Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Trp247Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA1139687465", "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.2:c.744G>A" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Trp248Ter", "hgvsWellDefined": "NP_001305713.1:p.Trp248_Asp902delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684598" }, { "@id": "http://reg.genome.network/allele/PA2829331761", "coordinates": [ { "allele": "A", "end": 922, "referenceAllele": "G", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.4:c.741G>A" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Trp247Ter", "hgvsWellDefined": "NP_001578.2:p.Trp247_Asp893delinsAsnValAsnGlyGlnSerProAspSerGlyLeuGluProTrpLeuAsnCysAspProAsnProProAspIleTyrCysIleGlyPheGlnGluLeuAspLeuSerThrGluAlaPhePheTyrPheGluSerValLysGluGlnGluTrpSerMetAlaValGluArgGlyLeuHisSerLysAlaLysTyrLysLysValGlnLeuValArgLeuValGlyMetMetLeuLeuIlePheAlaArgLysAspGlnCysArgTyrIleArgAspIleAlaThrGluThrValGlyThrGlyIleMetGlyLysMetGlyAsnLysGlyGlyValAlaValArgPheValPheHisAsnThrThrPheCysIleValAsnSerHisLeuAlaAlaHisValGluAspPheGluArgArgAsnGlnAspTyrLysAspIleCysAlaArgMetSerPheValValProAsnGlnThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695324" } ], "type": "nucleotide" }