{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA414553095", "communityStandardTitle": [ "NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1878390[alleleid]", "alleleId": 1878390, "preferredName": "NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2138717", "RCV": [ "RCV003041481" ], "variationId": 2138717 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.128696741C>T?assembly=hg19", "id": "chrX:g.128696741C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.129562764C>T?assembly=hg38", "id": "chrX:g.129562764C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2521890405", "rs": 2521890405 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 129562764, "referenceAllele": "C", "start": 129562763 } ], "hgvs": [ "NC_000023.11:g.129562764C>T", "CM000685.2:g.129562764C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 128696741, "referenceAllele": "C", "start": 128696740 } ], "hgvs": [ "NC_000023.10:g.128696741C>T", "CM000685.1:g.128696741C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 128524422, "referenceAllele": "C", "start": 128524421 } ], "hgvs": [ "NC_000023.9:g.128524422C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 27490, "referenceAllele": "C", "start": 27489 } ], "hgvs": [ "NG_008638.1:g.27490C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001137" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1792, "referenceAllele": "C", "start": 1791 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000691455.1:c.*1514C>T" ], "proteinEffect": { "hgvs": "ENSP00000510265.1:n.*1514C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS833224" }, { "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000693473.1:c.1339C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834263" }, { "coordinates": [ { "allele": "T", "end": 1403, "referenceAllele": "C", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.9:c.1222C>T" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Gln408Ter", "hgvsWellDefined": "ENSP00000360154.4:p.Gln408_Asp901delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750725", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1222C>T" }, "RefSeq": { "hgvs": "NM_000276.4:c.1222C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Gln408Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Gln408Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646010.1:c.1270C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768650" }, { "coordinates": [ { "allele": "T", "end": 333, "referenceAllele": "C", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000646914.1:c.333C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769135" }, { "coordinates": [ { "allele": "T", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000647245.1:c.873C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769311" }, { "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000357121.5:c.1222C>T" ], "proteinEffect": { "hgvs": "ENSP00000349635.5:p.Gln408Ter", "hgvsWellDefined": "ENSP00000349635.5:p.Gln408_Asp893delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263990" }, { "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "ENST00000371113.8:c.1222C>T" ], "proteinEffect": { "hgvs": "ENSP00000360154.4:p.Gln408Ter", "hgvsWellDefined": "ENSP00000360154.4:p.Gln408_Asp901delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268420" }, { "@id": "http://reg.genome.network/allele/PA2825137644", "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.3:c.1222C>T" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Gln408Ter", "hgvsWellDefined": "NP_000267.2:p.Gln408_Asp901delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006338" }, { "@id": "http://reg.genome.network/allele/PA2829331870", "coordinates": [ { "allele": "T", "end": 1387, "referenceAllele": "C", "start": 1386 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.3:c.1222C>T" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Gln408Ter", "hgvsWellDefined": "NP_001578.2:p.Gln408_Asp893delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026944" }, { "coordinates": [ { "allele": "T", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.1:c.751C>T" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Gln251Ter", "hgvsWellDefined": "XP_005262479.1:p.Gln251_Asp744delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS063448" }, { "coordinates": [ { "allele": "T", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531342.1:c.1225C>T" ], "proteinEffect": { "hgvs": "XP_011529644.1:p.Gln409Ter", "hgvsWellDefined": "XP_011529644.1:p.Gln409_Asp902delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098378" }, { "coordinates": [ { "allele": "T", "end": 1317, "referenceAllele": "C", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531343.1:c.1225C>T" ], "proteinEffect": { "hgvs": "XP_011529645.1:p.Gln409Ter", "hgvsWellDefined": "XP_011529645.1:p.Gln409_Asp894delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098379" }, { "coordinates": [ { "allele": "T", "end": 1296, "referenceAllele": "C", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.1:c.1078C>T" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Gln360Ter", "hgvsWellDefined": "XP_011529646.1:p.Gln360_Asp853delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098380" }, { "coordinates": [ { "allele": "T", "end": 1312, "referenceAllele": "C", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.1:c.1078C>T" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Gln360Ter", "hgvsWellDefined": "XP_011529647.1:p.Gln360_Asp853delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098381" }, { "coordinates": [ { "allele": "T", "end": 1319, "referenceAllele": "C", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531346.1:c.1225C>T" ], "proteinEffect": { "hgvs": "XP_011529648.1:p.Gln409Ter", "hgvsWellDefined": "XP_011529648.1:p.Gln409_Arg832delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS098382" }, { "@id": "http://reg.genome.network/allele/PA2580202355", "coordinates": [ { "allele": "T", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.1:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Gln409Ter", "hgvsWellDefined": "NP_001305713.1:p.Gln409_Asp902delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513020" }, { "coordinates": [ { "allele": "T", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_005262422.2:c.751C>T" ], "proteinEffect": { "hgvs": "XP_005262479.1:p.Gln251Ter", "hgvsWellDefined": "XP_005262479.1:p.Gln251_Asp744delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535480" }, { "coordinates": [ { "allele": "T", "end": 1300, "referenceAllele": "C", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531344.3:c.1078C>T" ], "proteinEffect": { "hgvs": "XP_011529646.1:p.Gln360Ter", "hgvsWellDefined": "XP_011529646.1:p.Gln360_Asp853delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550338" }, { "coordinates": [ { "allele": "T", "end": 1303, "referenceAllele": "C", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_011531345.3:c.1078C>T" ], "proteinEffect": { "hgvs": "XP_011529647.1:p.Gln360Ter", "hgvsWellDefined": "XP_011529647.1:p.Gln360_Asp853delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550339" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "C", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "XM_017029554.1:c.1222C>T" ], "proteinEffect": { "hgvs": "XP_016885043.1:p.Gln408Ter", "hgvsWellDefined": "XP_016885043.1:p.Gln408_Arg831delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleArgIleLeuCysAspGlnSerLeuArgSerTrpMetArgThrPheAspLeuPheProTyrProAlaLeuThrLysArgLysGlnGlyValAspAsnAsnAspLeuLysAlaTrpAspIleGluAlaThrAlaLeuValLeuPheSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579074" }, { "@id": "http://reg.genome.network/allele/PA2825137644", "coordinates": [ { "allele": "T", "end": 1403, "referenceAllele": "C", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_000276.4:c.1222C>T" ], "proteinEffect": { "hgvs": "NP_000267.2:p.Gln408Ter", "hgvsWellDefined": "NP_000267.2:p.Gln408_Asp901delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662380", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371113.9:c.1222C>T" }, "RefSeq": { "hgvs": "NM_000276.4:c.1222C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360154.4:p.Gln408Ter" }, "RefSeq": { "hgvs": "NP_000267.2:p.Gln408Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580202355", "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001318784.2:c.1225C>T" ], "proteinEffect": { "hgvs": "NP_001305713.1:p.Gln409Ter", "hgvsWellDefined": "NP_001305713.1:p.Gln409_Asp902delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluGluAspSerPheLeuGluLysGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS684598" }, { "@id": "http://reg.genome.network/allele/PA2829331870", "coordinates": [ { "allele": "T", "end": 1403, "referenceAllele": "C", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN008108", "geneNCBI_id": 4952, "geneSymbol": "OCRL", "hgvs": [ "NM_001587.4:c.1222C>T" ], "proteinEffect": { "hgvs": "NP_001578.2:p.Gln408Ter", "hgvsWellDefined": "NP_001578.2:p.Gln408_Asp893delinsLeuAsnIleMetLysHisGluValValIleTrpLeuGlyAspLeuAsnTyrArgLeuCysMetProAspAlaAsnGluValLysSerLeuIleAsnLysLysAspLeuGlnArgLeuLeuLysPheAspGlnLeuAsnIleGlnArgThrGlnLysLysAlaPheValAspPheAsnGluGlyGluIleLysPheIleProThrTyrLysTyrAspSerLysThrAspArgTrpAspSerSerGlyLysCysArgValProAlaTrpCysAspArgIleLeuTrpArgGlyThrAsnValAsnGlnLeuAsnTyrArgSerHisMetGluLeuLysThrSerAspHisLysProValSerAlaLeuPheHisIleGlyValLysValValAspGluArgArgTyrArgLysValPheGluAspSerValArgIleMetAspArgMetGluAsnAspPheLeuProSerLeuGluLeuSerArgArgGluPheValPheGluAsnValLysPheArgGlnLeuGlnLysGluLysPheGlnIleSerAsnAsnGlyGlnValProCysHisPheSerPheIleProLysLeuAsnAspSerGlnTyrCysLysProTrpLeuArgAlaGluProPheGluGlyTyrLeuGluProAsnGluThrValAspIleSerLeuAspValTyrValSerLysAspSerValThrIleLeuAsnSerGlyGluAspLysIleGluAspIleLeuValLeuHisLeuAspArgGlyLysAspTyrPheLeuThrIleSerGlyAsnTyrLeuProSerCysPheGlyThrSerLeuGluAlaLeuCysArgMetLysArgProIleArgGluValProValThrLysLeuIleAspLeuGluLysSerLeuLeuGlnMetValProLeuAspGluGlyAlaSerGluArgProLeuGlnValProLysGluIleTrpLeuLeuValAspHisLeuPheLysTyrAlaCysHisGlnGluAspLeuPheGlnThrProGlyMetGlnGluGluLeuGlnGlnIleIleAspCysLeuAspThrSerIleProGluThrIleProGlySerAsnHisSerValAlaGluAlaLeuLeuIlePheLeuGluAlaLeuProGluProValIleCysTyrGluLeuTyrGlnArgCysLeuAspSerAlaTyrAspProArgIleCysArgGlnValIleSerGlnLeuProArgCysHisArgAsnValPheArgTyrLeuMetAlaPheLeuArgGluLeuLeuLysPheSerGluTyrAsnSerValAsnAlaAsnMetIleAlaThrLeuPheThrSerLeuLeuLeuArgProProProAsnLeuMetAlaArgGlnThrProSerAspArgGlnArgAlaIleGlnPheLeuLeuGlyPheLeuLeuGlySerGluGluAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695324" } ], "type": "nucleotide" }