{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA348575080", "communityStandardTitle": [ "NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=552049[alleleid]", "alleleId": 552049, "preferredName": "NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/560923", "RCV": [ "RCV000679853" ], "variationId": 560923 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.135890538C>G?assembly=hg19", "id": "chr2:g.135890538C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.135132968C>G?assembly=hg38", "id": "chr2:g.135132968C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1558792256", "rs": 1558792256 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 135132968, "referenceAllele": "C", "start": 135132967 } ], "hgvs": [ "NC_000002.12:g.135132968C>G", "CM000664.2:g.135132968C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 135890538, "referenceAllele": "C", "start": 135890537 } ], "hgvs": [ "NC_000002.11:g.135890538C>G", "CM000664.1:g.135890538C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 135607008, "referenceAllele": "C", "start": 135607007 } ], "hgvs": [ "NC_000002.10:g.135607008C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 85704, "referenceAllele": "C", "start": 85703 } ], "hgvs": [ "NG_016972.1:g.85704C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS003341" } ], "transcriptAlleles": [ { 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"ENSP00000444306.2:p.Ser437_Pro1024delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS825900" }, { "coordinates": [ { "allele": "G", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000685967.1:c.*767C>G" ], "proteinEffect": { "hgvs": "ENSP00000508423.1:n.*767C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS830330" }, { "coordinates": [ { "allele": "G", "end": 1656, "referenceAllele": "C", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000686114.1:n.1656C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS830406" }, { "coordinates": [ { "allele": "G", "end": 1569, "referenceAllele": "C", "start": 1568 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000687199.1:c.*1378C>G" ], "proteinEffect": { "hgvs": "ENSP00000510319.1:n.*1378C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS830965" }, { "coordinates": [ { "allele": "G", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000688088.1:n.1329C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831435" }, { "coordinates": [ { "allele": "G", "end": 150, "endIntronDirection": "-", "endIntronOffset": 34724, "referenceAllele": "C", "start": 150, "startIntronDirection": "-", "startIntronOffset": 34725 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000688182.1:c.151-34725C>G" ], "proteinEffect": { "hgvs": "ENSP00000509324.1:n.151-34725C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS831483" }, { "coordinates": [ { "allele": "G", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000689880.1:n.1329C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832421" }, { "coordinates": [ { "allele": "G", "end": 1191, "referenceAllele": "C", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000690208.1:c.*988C>G" ], "proteinEffect": { "hgvs": "ENSP00000510746.1:n.*988C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832586" }, { "coordinates": [ { "allele": "G", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000690785.1:n.1329C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS832874" }, { "coordinates": [ { "allele": "G", "end": 1100, "referenceAllele": "C", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000691339.1:c.*933C>G" ], "proteinEffect": { "hgvs": "ENSP00000509953.1:n.*933C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833164" }, { "coordinates": [ { "allele": "G", "end": 1533, "referenceAllele": "C", "start": 1532 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000691478.1:c.*1409C>G" ], "proteinEffect": { "hgvs": "ENSP00000509081.1:n.*1409C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS833237" }, { "coordinates": [ { "allele": "G", "end": 1329, "referenceAllele": "C", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000693554.1:c.1310C>G" ], "proteinEffect": { "hgvs": "ENSP00000509030.1:p.Ser437Ter", "hgvsWellDefined": "ENSP00000509030.1:p.Ser437_Asp789delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysPheLeuGlyAlaPheSerAsnIleIleLeuThrPheGlyValValAlaAlaTyrLeuGluCysCysLeuValLysAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS834305" }, { "coordinates": [ { "allele": "G", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000264158.13:c.1310C>G" ], "proteinEffect": { "hgvs": "ENSP00000264158.8:p.Ser437Ter", "hgvsWellDefined": "ENSP00000264158.8:p.Ser437_Phe981delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742627", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264158.13:c.1310C>G" }, "RefSeq": { "hgvs": "NM_012233.3:c.1310C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264158.8:p.Ser437Ter" }, "RefSeq": { "hgvs": "NP_036365.1:p.Ser437Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000264158.12:c.1310C>G" ], "proteinEffect": { "hgvs": "ENSP00000264158.7:p.Ser437Ter", "hgvsWellDefined": "ENSP00000264158.7:p.Ser437_Phe981delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251429" }, { "coordinates": [ { "allele": "G", "end": 1320, "referenceAllele": "C", "start": 1319 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000442034.5:c.1310C>G" ], "proteinEffect": { "hgvs": "ENSP00000411418.1:p.Ser437Ter", "hgvsWellDefined": "ENSP00000411418.1:p.Ser437_Phe988delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS296694" }, { "coordinates": [ { "allele": "G", "end": 1379, "referenceAllele": "C", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000487003.5:n.1379C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS325672" }, { "coordinates": [ { "allele": "G", "end": 1178, "referenceAllele": "C", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "ENST00000539493.2:c.1178C>G" ], "proteinEffect": { "hgvs": "ENSP00000444306.1:p.Ser393Ter", "hgvsWellDefined": "ENSP00000444306.1:p.Ser393_Val935delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS361888" }, { "@id": "http://reg.genome.network/allele/PA2826065107", "coordinates": [ { "allele": "G", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.1:c.1310C>G" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Ser437Ter", "hgvsWellDefined": "NP_001165906.1:p.Ser437_Phe988delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015463" }, { "@id": "http://reg.genome.network/allele/PA658830520", "coordinates": [ { "allele": "G", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.2:c.1310C>G" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Ser437Ter", "hgvsWellDefined": "NP_036365.1:p.Ser437_Phe981delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032418" }, { "coordinates": [ { "allele": "G", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510822.1:c.1310C>G" ], "proteinEffect": { "hgvs": "XP_011509124.1:p.Ser437Ter", "hgvsWellDefined": "XP_011509124.1:p.Ser437_Pro1031delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078083" }, { "coordinates": [ { "allele": "G", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.1:c.1310C>G" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Ser437Ter", "hgvsWellDefined": "XP_011509125.1:p.Ser437_Pro1024delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078084" }, { "coordinates": [ { "allele": "G", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510824.1:c.1310C>G" ], "proteinEffect": { "hgvs": "XP_011509126.1:p.Ser437Ter", "hgvsWellDefined": "XP_011509126.1:p.Ser437_Val986delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078085" }, { "coordinates": [ { "allele": "G", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.1:c.1310C>G" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Ser437Ter", "hgvsWellDefined": "XP_011509127.1:p.Ser437_Val979delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078086" }, { "coordinates": [ { "allele": "G", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510823.3:c.1310C>G" ], "proteinEffect": { "hgvs": "XP_011509125.1:p.Ser437Ter", "hgvsWellDefined": "XP_011509125.1:p.Ser437_Pro1024delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541905" }, { "coordinates": [ { "allele": "G", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XM_011510825.3:c.1310C>G" ], "proteinEffect": { "hgvs": "XP_011509127.1:p.Ser437Ter", "hgvsWellDefined": "XP_011509127.1:p.Ser437_Val979delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS541906" }, { "coordinates": [ { "allele": "G", "end": 1337, "referenceAllele": "C", "start": 1336 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "XR_001738674.2:n.1337C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS589149" }, { "@id": "http://reg.genome.network/allele/PA2826065107", "coordinates": [ { "allele": "G", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_001172435.2:c.1310C>G" ], "proteinEffect": { "hgvs": "NP_001165906.1:p.Ser437Ter", "hgvsWellDefined": "NP_001165906.1:p.Ser437_Phe988delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678754" }, { "@id": "http://reg.genome.network/allele/PA658830520", "coordinates": [ { "allele": "G", "end": 1326, "referenceAllele": "C", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN017063", "geneNCBI_id": 22930, "geneSymbol": "RAB3GAP1", "hgvs": [ "NM_012233.3:c.1310C>G" ], "proteinEffect": { "hgvs": "NP_036365.1:p.Ser437Ter", "hgvsWellDefined": "NP_036365.1:p.Ser437_Phe981delinsGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697025", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264158.13:c.1310C>G" }, "RefSeq": { "hgvs": "NM_012233.3:c.1310C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264158.8:p.Ser437Ter" }, "RefSeq": { "hgvs": "NP_036365.1:p.Ser437Ter" } } } } ], "type": "nucleotide" }