{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16609237", "communityStandardTitle": [ "NM_203446.3(SYNJ1):c.2411G>A (p.Trp804Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=380178[alleleid]", "alleleId": 380178, "preferredName": "NM_203446.3(SYNJ1):c.2411G>A (p.Trp804Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/393358", "RCV": [ "RCV000445520" ], "variationId": 393358 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.34030076C>T?assembly=hg19", "id": "chr21:g.34030076C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr21:g.32657766C>T?assembly=hg38", "id": "chr21:g.32657766C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057524878", "rs": 1057524878 } ] }, "genomicAlleles": [ { "chromosome": "21", "coordinates": [ { "allele": "T", "end": 32657766, 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{ "allele": "A", "end": 2528, "referenceAllele": "G", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000382499.7:c.2528G>A" ], "proteinEffect": { "hgvs": "ENSP00000371939.2:p.Trp843Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS755481" }, { "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "G", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000630077.3:c.2396G>A" ], "proteinEffect": { "hgvs": "ENSP00000487560.1:p.Trp799Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS762533" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000674204.1:c.2411G>A" ], "proteinEffect": { "hgvs": "ENSP00000501504.1:p.Trp804Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774213" }, { "coordinates": [ { "allele": "A", "end": 2501, "referenceAllele": "G", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000674308.1:c.2411G>A" ], "proteinEffect": { "hgvs": "ENSP00000501426.1:p.Trp804Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774298" }, { "coordinates": [ { "allele": "A", "end": 2501, "referenceAllele": "G", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000674351.1:c.2411G>A" ], "proteinEffect": { "hgvs": "ENSP00000501530.1:p.Trp804Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774331", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674351.1:c.2411G>A" }, "RefSeq": { "hgvs": "NM_203446.3:c.2411G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501530.1:p.Trp804Ter" }, "RefSeq": { "hgvs": "NP_982271.3:p.Trp804Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2536, "referenceAllele": "G", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000357345.7:c.2411G>A" ], "proteinEffect": { "hgvs": "ENSP00000349903.3:p.Trp804Ter", "hgvsWellDefined": "ENSP00000349903.3:p.Trp804_Gly1295delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyAlaArgSerProAlaProThrArgLysGluPheGlyAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264064" }, { "coordinates": [ { "allele": "A", "end": 2513, "referenceAllele": "G", "start": 2512 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000382491.7:c.2396G>A" ], "proteinEffect": { "hgvs": "ENSP00000371931.4:p.Trp799Ter", "hgvsWellDefined": "ENSP00000371931.4:p.Trp799_Gly1264delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273770" }, { "coordinates": [ { "allele": "A", "end": 2528, "referenceAllele": "G", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000382499.6:c.2528G>A" ], "proteinEffect": { "hgvs": "ENSP00000371939.2:p.Trp843Ter", "hgvsWellDefined": "ENSP00000371939.2:p.Trp843_Gly1350delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyAlaArgSerProAlaProThrArgLysGluPheGlyGlyIleGlyAlaProProSerProGlyValAlaArgArgGluMetGluAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273774" }, { "coordinates": [ { "allele": "A", "end": 2536, "referenceAllele": "G", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000433931.6:c.2528G>A" ], "proteinEffect": { "hgvs": "ENSP00000409667.2:p.Trp843Ter", "hgvsWellDefined": "ENSP00000409667.2:p.Trp843_Arg1612delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyAlaArgSerProAlaProThrArgLysGluPheGlyGlyIleGlyAlaProProSerProGlyValAlaArgArgGluMetGluAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnValLysThrAsnGlyIleSerAspGlyLysArgGluSerProLeuLysIleAspProPheGluAspLeuSerPheAsnLeuLeuAlaValSerLysAlaGlnLeuSerValGlnThrSerProValProThrProAspProLysArgLeuIleGlnLeuProSerAlaThrGlnSerAsnValLeuSerSerValSerCysMetProThrMetProProIleProAlaArgSerGlnSerGlnGluAsnMetArgSerSerProAsnProPheIleThrGlyLeuThrArgThrAsnProPheSerAspArgThrAlaAlaProGlyAsnProPheArgAlaLysSerGluGluSerGluAlaThrSerTrpPheSerLysGluGluProValThrIleSerProPheProSerLeuGlnProLeuGlyHisAsnLysSerArgAlaSerSerSerLeuAspGlyPheLysAspSerPheAspLeuGlnGlyGlnSerThrLeuLysIleSerAsnProLysGlyTrpValThrPheGluGluGluGluAspPheGlyValLysGlyLysSerLysSerAlaCysSerAspLeuLeuGlyAsnGlnProSerSerPheSerGlySerAsnLeuThrLeuAsnAspAspTrpAsnLysGlyThrAsnValSerPheCysValLeuProSerArgArgProProProProProValProLeuLeuProProGlyThrSerProProValAspProPheThrThrLeuAlaSerLysAlaSerProThrLeuAspPheThrGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292785" }, { "coordinates": [ { "allele": "A", "end": 198, "referenceAllele": "G", "start": 197 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000464778.1:n.198G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS308527" }, { "coordinates": [ { "allele": "A", "end": 2482, "referenceAllele": "G", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "ENST00000630077.2:c.2396G>A" ], "proteinEffect": { "hgvs": "ENSP00000487560.1:p.Trp799Ter", "hgvsWellDefined": "ENSP00000487560.1:p.Trp799_Arg1526delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnValLysThrAsnGlyIleSerAspGlyLysArgGluSerProLeuLysIleAspProPheGluAspLeuSerPheAsnLeuLeuAlaValSerLysAlaGlnLeuSerValGlnThrSerProValProThrProAspProLysArgLeuIleGlnLeuProSerAlaThrGlnSerAsnValLeuSerSerValSerCysMetProThrMetProProIleProAlaArgSerGlnSerGlnGluAsnMetArgSerSerProAsnProPheIleThrGlyLeuThrArgThrAsnProPheSerAspArgThrAlaAlaProGlyAsnProPheArgAlaLysSerGluGluSerGluAlaThrSerTrpPheSerLysGluGluProValThrIleSerProPheProSerLeuGlnProLeuGlyHisAsnLysSerArgAlaSerSerSerLeuAspGlyPheLysAspSerPheAspLeuGlnGlyGlnSerThrLeuLysIleSerAsnProLysGlyTrpValThrPheGluGluGluGluAspPheGlyValLysGlyLysSerLysSerAlaCysSerAspLeuLeuGlyAsnGlnProSerSerPheSerGlySerAsnLeuThrLeuAsnAspAspTrpAsnLysGlyThrAsnValSerPheCysValLeuProSerArgArgProProProProProValProLeuLeuProProGlyThrSerProProValAspProPheThrThrLeuAlaSerLysAlaSerProThrLeuAspPheThrGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407315" }, { "@id": "http://reg.genome.network/allele/PA2825950466", "coordinates": [ { "allele": "A", "end": 2536, "referenceAllele": "G", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "NM_001160302.1:c.2411G>A" ], "proteinEffect": { "hgvs": "NP_001153774.1:p.Trp804Ter", "hgvsWellDefined": "NP_001153774.1:p.Trp804_Gly1295delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyAlaArgSerProAlaProThrArgLysGluPheGlyAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014172" }, { "@id": "http://reg.genome.network/allele/PA2825951206", "coordinates": [ { "allele": "A", "end": 2521, "referenceAllele": "G", "start": 2520 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "NM_001160306.1:c.2396G>A" ], "proteinEffect": { "hgvs": "NP_001153778.1:p.Trp799Ter", "hgvsWellDefined": "NP_001153778.1:p.Trp799_Arg1526delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnValLysThrAsnGlyIleSerAspGlyLysArgGluSerProLeuLysIleAspProPheGluAspLeuSerPheAsnLeuLeuAlaValSerLysAlaGlnLeuSerValGlnThrSerProValProThrProAspProLysArgLeuIleGlnLeuProSerAlaThrGlnSerAsnValLeuSerSerValSerCysMetProThrMetProProIleProAlaArgSerGlnSerGlnGluAsnMetArgSerSerProAsnProPheIleThrGlyLeuThrArgThrAsnProPheSerAspArgThrAlaAlaProGlyAsnProPheArgAlaLysSerGluGluSerGluAlaThrSerTrpPheSerLysGluGluProValThrIleSerProPheProSerLeuGlnProLeuGlyHisAsnLysSerArgAlaSerSerSerLeuAspGlyPheLysAspSerPheAspLeuGlnGlyGlnSerThrLeuLysIleSerAsnProLysGlyTrpValThrPheGluGluGluGluAspPheGlyValLysGlyLysSerLysSerAlaCysSerAspLeuLeuGlyAsnGlnProSerSerPheSerGlySerAsnLeuThrLeuAsnAspAspTrpAsnLysGlyThrAsnValSerPheCysValLeuProSerArgArgProProProProProValProLeuLeuProProGlyThrSerProProValAspProPheThrThrLeuAlaSerLysAlaSerProThrLeuAspPheThrGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014174" }, { "@id": "http://reg.genome.network/allele/PA2829448035", "coordinates": [ { "allele": "A", "end": 2528, "referenceAllele": "G", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "NM_003895.3:c.2528G>A" ], "proteinEffect": { "hgvs": "NP_003886.3:p.Trp843Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS029108" }, { "@id": "http://reg.genome.network/allele/PA645414827", "coordinates": [ { "allele": "A", "end": 2528, "referenceAllele": "G", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "NM_203446.2:c.2528G>A" ], "proteinEffect": { "hgvs": "NP_982271.2:p.Trp843Ter", "hgvsWellDefined": "NP_982271.2:p.Trp843_Gly1350delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyAlaArgSerProAlaProThrArgLysGluPheGlyGlyIleGlyAlaProProSerProGlyValAlaArgArgGluMetGluAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045212" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028494.1:c.2411G>A" ], "proteinEffect": { "hgvs": "XP_016883983.1:p.Trp804Ter", "hgvsWellDefined": "XP_016883983.1:p.Trp804_Arg1557delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyAlaArgSerProAlaProThrArgLysGluPheGlyAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnValLysThrAsnGlyIleSerAspGlyLysArgGluSerProLeuLysIleAspProPheGluAspLeuSerPheAsnLeuLeuAlaValSerLysAlaGlnLeuSerValGlnThrSerProValProThrProAspProLysArgLeuIleGlnLeuProSerAlaThrGlnSerAsnValLeuSerSerValSerCysMetProThrMetProProIleProAlaArgSerGlnSerGlnGluAsnMetArgSerSerProAsnProPheIleThrGlyLeuThrArgThrAsnProPheSerAspArgThrAlaAlaProGlyAsnProPheArgAlaLysSerGluGluSerGluAlaThrSerTrpPheSerLysGluGluProValThrIleSerProPheProSerLeuGlnProLeuGlyHisAsnLysSerArgAlaSerSerSerLeuAspGlyPheLysAspSerPheAspLeuGlnGlyGlnSerThrLeuLysIleSerAsnProLysGlyTrpValThrPheGluGluGluGluAspPheGlyValLysGlyLysSerLysSerAlaCysSerAspLeuLeuGlyAsnGlnProSerSerPheSerGlySerAsnLeuThrLeuAsnAspAspTrpAsnLysGlyThrAsnValSerPheCysValLeuProSerArgArgProProProProProValProLeuLeuProProGlyThrSerProProValAspProPheThrThrLeuAlaSerLysAlaSerProThrLeuAspPheThrGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578229" }, { "coordinates": [ { "allele": "A", "end": 5720, "referenceAllele": "G", "start": 5719 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028495.2:c.2513G>A" ], "proteinEffect": { "hgvs": "XP_016883984.1:p.Trp838Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578230" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028496.1:c.2411G>A" ], "proteinEffect": { "hgvs": "XP_016883985.1:p.Trp804Ter", "hgvsWellDefined": "XP_016883985.1:p.Trp804_Arg1544delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnValLysThrAsnGlyIleSerAspGlyLysArgGluSerProLeuLysIleAspProPheGluAspLeuSerPheAsnLeuLeuAlaValSerLysAlaGlnLeuSerValGlnThrSerProValProThrProAspProLysArgLeuIleGlnLeuProSerAlaThrGlnSerAsnValLeuSerSerValSerCysMetProThrMetProProIleProAlaArgSerGlnSerGlnGluAsnMetArgSerSerProAsnProPheIleThrGlyLeuThrArgThrAsnProPheSerAspArgThrAlaAlaProGlyAsnProPheArgAlaLysSerGluGluSerGluAlaThrSerTrpPheSerLysGluGluProValThrIleSerProPheProSerLeuGlnProLeuGlyHisAsnLysSerArgAlaSerSerSerLeuAspGlyPheLysAspSerPheAspLeuGlnGlyGlnSerThrLeuLysIleSerAsnProLysGlyTrpValThrPheGluGluGluGluAspPheGlyValLysGlyLysSerLysSerAlaCysSerAspLeuLeuGlyAsnGlnProSerSerPheSerGlySerAsnLeuThrLeuAsnAspAspTrpAsnLysGlyThrAsnValSerPheCysValLeuProSerArgArgProProProProProValProLeuLeuProProGlyThrSerProProValAspProPheThrThrLeuAlaSerLysAlaSerProThrLeuAspPheThrGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578231" }, { "coordinates": [ { "allele": "A", "end": 5735, "referenceAllele": "G", "start": 5734 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028497.2:c.2528G>A" ], "proteinEffect": { "hgvs": "XP_016883986.1:p.Trp843Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578232" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028498.1:c.2411G>A" ], "proteinEffect": { "hgvs": "XP_016883987.1:p.Trp804Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578233" }, { "coordinates": [ { "allele": "A", "end": 5720, "referenceAllele": "G", "start": 5719 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028499.2:c.2513G>A" ], "proteinEffect": { "hgvs": "XP_016883988.1:p.Trp838Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578234" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028500.1:c.2411G>A" ], "proteinEffect": { "hgvs": "XP_016883989.1:p.Trp804Ter", "hgvsWellDefined": "XP_016883989.1:p.Trp804_Gly1311delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyAlaArgSerProAlaProThrArgLysGluPheGlyGlyIleGlyAlaProProSerProGlyValAlaArgArgGluMetGluAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578235" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028501.1:c.2411G>A" ], "proteinEffect": { "hgvs": "XP_016883990.1:p.Trp804Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS578236" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028502.1:c.2411G>A" ], "proteinEffect": { "hgvs": "XP_016883991.1:p.Trp804Ter", "hgvsWellDefined": "XP_016883991.1:p.Trp804_Gly1294delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyAlaArgSerProAlaProThrArgLysGluPheGlyAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578237" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028503.1:c.2411G>A" ], "proteinEffect": { "hgvs": "XP_016883992.1:p.Trp804Ter", "hgvsWellDefined": "XP_016883992.1:p.Trp804_Gly1282delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578238" }, { "coordinates": [ { "allele": "A", "end": 2518, "referenceAllele": "G", "start": 2517 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028504.1:c.2411G>A" ], "proteinEffect": { "hgvs": "XP_016883993.1:p.Trp804Ter", "hgvsWellDefined": "XP_016883993.1:p.Trp804_Gly1269delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578239" }, { "coordinates": [ { "allele": "A", "end": 5720, "referenceAllele": "G", "start": 5719 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "XM_017028505.2:c.2513G>A" ], "proteinEffect": { "hgvs": "XP_016883994.1:p.Trp838Ter", "hgvsWellDefined": "XP_016883994.1:p.Trp838_Gly1303delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578240" }, { "@id": "http://reg.genome.network/allele/PA2825951206", "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "G", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "NM_001160306.2:c.2396G>A" ], "proteinEffect": { "hgvs": "NP_001153778.1:p.Trp799Ter", "hgvsWellDefined": "NP_001153778.1:p.Trp799_Arg1526delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnValLysThrAsnGlyIleSerAspGlyLysArgGluSerProLeuLysIleAspProPheGluAspLeuSerPheAsnLeuLeuAlaValSerLysAlaGlnLeuSerValGlnThrSerProValProThrProAspProLysArgLeuIleGlnLeuProSerAlaThrGlnSerAsnValLeuSerSerValSerCysMetProThrMetProProIleProAlaArgSerGlnSerGlnGluAsnMetArgSerSerProAsnProPheIleThrGlyLeuThrArgThrAsnProPheSerAspArgThrAlaAlaProGlyAsnProPheArgAlaLysSerGluGluSerGluAlaThrSerTrpPheSerLysGluGluProValThrIleSerProPheProSerLeuGlnProLeuGlyHisAsnLysSerArgAlaSerSerSerLeuAspGlyPheLysAspSerPheAspLeuGlnGlyGlnSerThrLeuLysIleSerAsnProLysGlyTrpValThrPheGluGluGluGluAspPheGlyValLysGlyLysSerLysSerAlaCysSerAspLeuLeuGlyAsnGlnProSerSerPheSerGlySerAsnLeuThrLeuAsnAspAspTrpAsnLysGlyThrAsnValSerPheCysValLeuProSerArgArgProProProProProValProLeuLeuProProGlyThrSerProProValAspProPheThrThrLeuAlaSerLysAlaSerProThrLeuAspPheThrGluArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678145" }, { "@id": "http://reg.genome.network/allele/PA2830478310", "coordinates": [ { "allele": "A", "end": 2501, "referenceAllele": "G", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN011503", "geneNCBI_id": 8867, "geneSymbol": "SYNJ1", "hgvs": [ "NM_203446.3:c.2411G>A" ], "proteinEffect": { "hgvs": "NP_982271.3:p.Trp804Ter", "hgvsWellDefined": "NP_982271.3:p.Trp804_Gly1311delinsThrAspArgValLeuTrpArgArgArgLysTrpProPheAspArgSerAlaGluAspLeuAspLeuLeuAsnAlaSerPheGlnAspGluSerLysIleLeuTyrThrTrpThrProGlyThrLeuLeuHisTyrGlyArgAlaGluLeuLysThrSerAspHisArgProValValAlaLeuIleAspIleAspIlePheGluValGluAlaGluGluArgGlnAsnIleTyrLysGluValIleAlaValGlnGlyProProAspGlyThrValLeuValSerIleLysSerSerLeuProGluAsnAsnPhePheAspAspAlaLeuIleAspGluLeuLeuGlnGlnPheAlaSerPheGlyGluValIleLeuIleArgPheValGluAspLysMetTrpValThrPheLeuGluGlySerSerAlaLeuAsnValLeuSerLeuAsnGlyLysGluLeuLeuAsnArgThrIleThrIleAlaLeuLysSerProAspTrpIleLysAsnLeuGluGluGluMetSerLeuGluLysIleSerIleAlaLeuProSerSerThrSerSerThrLeuLeuGlyGluAspAlaGluValAlaAlaAspPheAspMetGluGlyAspValAspAspTyrSerAlaGluValGluGluLeuLeuProGlnHisLeuGlnProSerSerSerSerGlyLeuGlyThrSerProSerSerSerProArgThrSerProCysGlnSerProThrIleSerGluGlyProValProSerLeuProIleArgProSerArgAlaProSerArgThrProGlyProProSerAlaGlnSerSerProIleAspAlaGlnProAlaThrProLeuProGlnLysAspProAlaGlnProLeuGluProLysArgProProProProArgProValAlaProProThrArgProAlaProProGlnArgProProProProSerGlyAlaArgSerProAlaProThrArgLysGluPheGlyGlyIleGlyAlaProProSerProGlyValAlaArgArgGluMetGluAlaProLysSerProGlyThrThrArgLysAspAsnIleGlyArgSerGlnProSerProGlnAlaGlyLeuAlaGlyProGlyProAlaGlyTyrSerThrAlaArgProThrIleProProArgAlaGlyValIleSerAlaProGlnSerHisAlaArgAlaSerAlaGlyArgLeuThrProGluSerGlnSerLysThrSerGluThrSerLysGlySerThrPheLeuProGluProLeuLysProGlnAlaAlaPheProProGlnSerSerLeuProProProAlaGlnArgLeuGlnGluProLeuValProValAlaAlaProMetProGlnSerGlyProGlnProAsnLeuGluThrProProGlnProProProArgSerArgSerSerHisSerLeuProSerGluAlaSerSerGlnProGlnGlnGluGlnProSerGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701644", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674351.1:c.2411G>A" }, "RefSeq": { "hgvs": "NM_203446.3:c.2411G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501530.1:p.Trp804Ter" }, "RefSeq": { "hgvs": "NP_982271.3:p.Trp804Ter" } } } } ], "type": "nucleotide" }