{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA414553072", "communityStandardTitle": [ "NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1861984[alleleid]", "alleleId": 1861984, "preferredName": "NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1804969", "RCV": [ "RCV002471387" ], "variationId": 1804969 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.128696729C>T?assembly=hg19", "id": "chrX:g.128696729C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.129562752C>T?assembly=hg38", "id": "chrX:g.129562752C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2521890316", "rs": 2521890316 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 129562752, "referenceAllele": "C", "start": 129562751 } ], "hgvs": [ "NC_000023.11:g.129562752C>T", "CM000685.2:g.129562752C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 128696729, "referenceAllele": "C", "start": 128696728 } ], "hgvs": [ "NC_000023.10:g.128696729C>T", "CM000685.1:g.128696729C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 128524410, "referenceAllele": "C", "start": 128524409 } ], "hgvs": [ "NC_000023.9:g.128524410C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 27478, "referenceAllele": "C", "start": 27477 } ], "hgvs": [ "NG_008638.1:g.27478C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001137" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1780, "referenceAllele": "C", "start": 1779 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000691455.1:c.*1502C>T" ], "proteinEffect": { "hgvs": "ENSP00000510265.1:n.*1502C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS833224" }, { "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000693473.1:c.1327C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834263" }, { "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.9:c.1210C>T" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Gln404Ter", "hgvsWellDefined": "ENSP00000360154.4:p.Gln404_Asp901delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1210C>T" }, "RefSeq": { "hgvs": "NM_000276.4:c.1210C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Gln404Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Gln404Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646010.1:c.1258C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768650" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "C", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646914.1:c.321C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769135" }, { "coordinates": [ { "allele": "T", "end": 861, "referenceAllele": "C", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000647245.1:c.861C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769311" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000357121.5:c.1210C>T" ], "proteinEffect": { "hgvs": "ENSP00000349635.5:p.Gln404Ter", "hgvsWellDefined": "ENSP00000349635.5:p.Gln404_Asp893delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263990" }, { "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.8:c.1210C>T" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Gln404Ter", "hgvsWellDefined": "ENSP00000360154.4:p.Gln404_Asp901delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268420" }, { "@id": "http://reg.genome.network/allele/PA2825137641", "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.3:c.1210C>T" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Gln404Ter", "hgvsWellDefined": "NP_000267.2:p.Gln404_Asp901delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006338" }, { "@id": "http://reg.genome.network/allele/PA2829331866", "coordinates": [ { "allele": "T", "end": 1375, "referenceAllele": "C", "start": 1374 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.3:c.1210C>T" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Gln404Ter", "hgvsWellDefined": "NP_001578.2:p.Gln404_Asp893delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026944" }, { "coordinates": [ { "allele": "T", "end": 1182, "referenceAllele": "C", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.1:c.739C>T" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Gln247Ter", "hgvsWellDefined": "XP_005262479.1:p.Gln247_Asp744delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063448" }, { "coordinates": [ { "allele": "T", "end": 1392, "referenceAllele": "C", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531342.1:c.1213C>T" ], "proteinEffect": { "hgvs": "XP_011529644.1:p.Gln405Ter", "hgvsWellDefined": "XP_011529644.1:p.Gln405_Asp902delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098378" }, { "coordinates": [ { "allele": "T", "end": 1305, "referenceAllele": "C", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531343.1:c.1213C>T" ], "proteinEffect": { "hgvs": "XP_011529645.1:p.Gln405Ter", "hgvsWellDefined": "XP_011529645.1:p.Gln405_Asp894delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098379" }, { "coordinates": [ { "allele": "T", "end": 1284, "referenceAllele": "C", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.1:c.1066C>T" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Gln356Ter", "hgvsWellDefined": "XP_011529646.1:p.Gln356_Asp853delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098380" }, { "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "C", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.1:c.1066C>T" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Gln356Ter", "hgvsWellDefined": "XP_011529647.1:p.Gln356_Asp853delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098381" }, { "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531346.1:c.1213C>T" ], "proteinEffect": { "hgvs": "XP_011529648.1:p.Gln405Ter", "hgvsWellDefined": "XP_011529648.1:p.Gln405_Arg832delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098382" }, { "@id": "http://reg.genome.network/allele/PA2580202352", "coordinates": [ { "allele": "T", "end": 1398, "referenceAllele": "C", "start": 1397 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.1:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Gln405Ter", "hgvsWellDefined": "NP_001305713.1:p.Gln405_Asp902delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513020" }, { "coordinates": [ { "allele": "T", "end": 1182, "referenceAllele": "C", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.2:c.739C>T" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Gln247Ter", "hgvsWellDefined": "XP_005262479.1:p.Gln247_Asp744delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535480" }, { "coordinates": [ { "allele": "T", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.3:c.1066C>T" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Gln356Ter", "hgvsWellDefined": "XP_011529646.1:p.Gln356_Asp853delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550338" }, { "coordinates": [ { "allele": "T", "end": 1291, "referenceAllele": "C", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.3:c.1066C>T" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Gln356Ter", "hgvsWellDefined": "XP_011529647.1:p.Gln356_Asp853delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550339" }, { "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_017029554.1:c.1210C>T" ], "proteinEffect": { "hgvs": "XP_016885043.1:p.Gln404Ter", "hgvsWellDefined": "XP_016885043.1:p.Gln404_Arg831delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579074" }, { "@id": "http://reg.genome.network/allele/PA2825137641", "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.4:c.1210C>T" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Gln404Ter", "hgvsWellDefined": "NP_000267.2:p.Gln404_Asp901delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662380", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1210C>T" }, "RefSeq": { "hgvs": "NM_000276.4:c.1210C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Gln404Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Gln404Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580202352", "coordinates": [ { "allele": "T", "end": 1394, "referenceAllele": "C", "start": 1393 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.2:c.1213C>T" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Gln405Ter", "hgvsWellDefined": "NP_001305713.1:p.Gln405_Asp902delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684598" }, { "@id": "http://reg.genome.network/allele/PA2829331866", "coordinates": [ { "allele": "T", "end": 1391, "referenceAllele": "C", "start": 1390 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.4:c.1210C>T" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Gln404Ter", "hgvsWellDefined": "NP_001578.2:p.Gln404_Asp893delinsThrLeuProGlnLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695324" } ], "type": "nucleotide" }