{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA363692739", "communityStandardTitle": [ "NM_006772.3(SYNGAP1):c.1715G>A (p.Trp572Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.33408544G>A?assembly=hg19", "id": "chr6:g.33408544G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.33440767G>A?assembly=hg38", "id": "chr6:g.33440767G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554121684", "rs": 1554121684 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 33440767, "referenceAllele": "G", "start": 33440766 } ], "hgvs": [ "NC_000006.12:g.33440767G>A", "CM000668.2:g.33440767G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 33408544, "referenceAllele": "G", "start": 33408543 } ], "hgvs": [ "NC_000006.11:g.33408544G>A", "CM000668.1:g.33408544G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 33516522, "referenceAllele": "G", "start": 33516521 } ], "hgvs": [ "NC_000006.10:g.33516522G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "A", "end": 25698, "referenceAllele": "G", "start": 25697 } ], "hgvs": [ "NG_016137.1:g.25698G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002971" }, { "coordinates": [ { "allele": "A", "end": 25698, "referenceAllele": "G", "start": 25697 } ], "hgvs": [ "NG_016137.2:g.25698G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616213" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1504, "referenceAllele": "G", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000682587.1:c.1457G>A" ], "proteinEffect": { "hgvs": "ENSP00000507403.1:p.Trp486Ter", "hgvsWellDefined": "ENSP00000507403.1:p.Trp486_His1257delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnGluArgGlnLeuProProLeuGlyProThrAsnProArgValThrLeuAlaProProTrpAsnGlyLeuAlaProProAlaProProProProProArgLeuGlnIleThrGluAsnGlyGluPheArgAsnThrAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827577" }, { "coordinates": [ { "allele": "A", "end": 1715, "referenceAllele": "G", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000418600.7:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000403636.3:p.Trp572Ter", "hgvsWellDefined": "ENSP00000403636.3:p.Trp572_Gly1285delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlySerProSerLeuGlnAlaAspAlaGlyGlyGlyGlyAlaAlaProGlyProProArgHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754750" }, { "coordinates": [ { "allele": "A", "end": 1725, "referenceAllele": "G", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000449372.7:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000416519.4:p.Trp572Ter", "hgvsWellDefined": "ENSP00000416519.4:p.Trp572_Val1292delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnArgGlySerPheProProTrpValGlnGlnThrArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756228" }, { "coordinates": [ { "allele": "A", "end": 1910, "referenceAllele": "G", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000629380.3:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000486463.1:p.Trp572Ter", "hgvsWellDefined": "ENSP00000486463.1:p.Trp572_His1343delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnGluArgGlnLeuProProLeuGlyProThrAsnProArgValThrLeuAlaProProTrpAsnGlyLeuAlaProProAlaProProProProProArgLeuGlnIleThrGluAsnGlyGluPheArgAsnThrAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762522" }, { "coordinates": [ { "allele": "A", "end": 1920, "referenceAllele": "G", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000638142.2:c.*112G>A" ], "proteinEffect": { "hgvs": "ENSP00000490803.1:n.*112G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS764373" }, { "coordinates": [ { "allele": "A", "end": 1779, "referenceAllele": "G", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000644458.1:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000495541.1:p.Trp572Ter", "hgvsWellDefined": "ENSP00000495541.1:p.Trp572_Val1308delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnArgGlySerPheProProTrpValGlnGlnThrArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767823" }, { "coordinates": [ { "allele": "A", "end": 1538, "referenceAllele": "G", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000645250.1:c.1538G>A" ], "proteinEffect": { "hgvs": "ENSP00000494861.1:p.Trp513Ter", "hgvsWellDefined": "ENSP00000494861.1:p.Trp513_Val1249delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnArgGlySerPheProProTrpValGlnGlnThrArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768246" }, { "coordinates": [ { "allele": "A", "end": 1915, "referenceAllele": "G", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000646630.1:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000496007.1:p.Trp572Ter", "hgvsWellDefined": "ENSP00000496007.1:p.Trp572_His1343delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnGluArgGlnLeuProProLeuGlyProThrAsnProArgValThrLeuAlaProProTrpAsnGlyLeuAlaProProAlaProProProProProArgLeuGlnIleThrGluAsnGlyGluPheArgAsnThrAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768980", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646630.1:c.1715G>A" }, "RefSeq": { "hgvs": "NM_006772.3:c.1715G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496007.1:p.Trp572Ter" }, "RefSeq": { "hgvs": "NP_006763.2:p.Trp572Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1670, "referenceAllele": "G", "start": 1669 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000293748.9:c.1670G>A" ], "proteinEffect": { "hgvs": "ENSP00000293748.6:p.Trp557Ter", "hgvsWellDefined": "ENSP00000293748.6:p.Trp557_Arg1284delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnLeuLeuIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253902" }, { "coordinates": [ { "allele": "A", "end": 1715, "referenceAllele": "G", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000418600.6:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000403636.3:p.Trp572Ter", "hgvsWellDefined": "ENSP00000403636.3:p.Trp572_Gly1285delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlySerProSerLeuGlnAlaAspAlaGlyGlyGlyGlyAlaAlaProGlyProProArgHisGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285478" }, { "coordinates": [ { "allele": "A", "end": 1718, "referenceAllele": "G", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000428982.4:c.1538G>A" ], "proteinEffect": { "hgvs": "ENSP00000412475.2:p.Trp513Ter", "hgvsWellDefined": "ENSP00000412475.2:p.Trp513_His1284delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnGluArgGlnLeuProProLeuGlyProThrAsnProArgValThrLeuAlaProProTrpAsnGlyLeuAlaProProAlaProProProProProArgLeuGlnIleThrGluAsnGlyGluPheArgAsnThrAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290451" }, { "coordinates": [ { "allele": "A", "end": 1725, "referenceAllele": "G", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000449372.6:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000416519.3:p.Trp572Ter", "hgvsWellDefined": "ENSP00000416519.3:p.Trp572_Pro1307del" }, "referenceSequence": "http://reg.genome.network/refseq/RS300189" }, { "coordinates": [ { "allele": "A", "end": 1715, "referenceAllele": "G", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000628646.2:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000486431.1:p.Trp572Ter", "hgvsWellDefined": "ENSP00000486431.1:p.Trp572_Arg1299delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnLeuLeuIleArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407085" }, { "coordinates": [ { "allele": "A", "end": 1910, "referenceAllele": "G", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000629380.2:c.1715G>A" ], "proteinEffect": { "hgvs": "ENSP00000486463.1:p.Trp572Ter", "hgvsWellDefined": "ENSP00000486463.1:p.Trp572_His1343delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnGluArgGlnLeuProProLeuGlyProThrAsnProArgValThrLeuAlaProProTrpAsnGlyLeuAlaProProAlaProProProProProArgLeuGlnIleThrGluAsnGlyGluPheArgAsnThrAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407215" }, { "@id": "http://reg.genome.network/allele/PA645471741", "coordinates": [ { "allele": "A", "end": 1910, "referenceAllele": "G", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "NM_006772.2:c.1715G>A" ], "proteinEffect": { "hgvs": "NP_006763.2:p.Trp572Ter", "hgvsWellDefined": "NP_006763.2:p.Trp572_His1343delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnGluArgGlnLeuProProLeuGlyProThrAsnProArgValThrLeuAlaProProTrpAsnGlyLeuAlaProProAlaProProProProProArgLeuGlnIleThrGluAsnGlyGluPheArgAsnThrAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS031758" }, { "@id": "http://reg.genome.network/allele/PA2825738099", "coordinates": [ { "allele": "A", "end": 1910, "referenceAllele": "G", "start": 1909 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "NM_001130066.1:c.1715G>A" ], "proteinEffect": { "hgvs": "NP_001123538.1:p.Trp572Ter", "hgvsWellDefined": "NP_001123538.1:p.Trp572_Val1292delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnArgGlySerPheProProTrpValGlnGlnThrArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511444" }, { "@id": "http://reg.genome.network/allele/PA2825738099", "coordinates": [ { "allele": "A", "end": 1915, "referenceAllele": "G", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "NM_001130066.2:c.1715G>A" ], "proteinEffect": { "hgvs": "NP_001123538.1:p.Trp572Ter", "hgvsWellDefined": "NP_001123538.1:p.Trp572_Val1292delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnArgGlySerPheProProTrpValGlnGlnThrArgValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677080" }, { "@id": "http://reg.genome.network/allele/PA645471741", "coordinates": [ { "allele": "A", "end": 1915, "referenceAllele": "G", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "NM_006772.3:c.1715G>A" ], "proteinEffect": { "hgvs": "NP_006763.2:p.Trp572Ter", "hgvsWellDefined": "NP_006763.2:p.Trp572_His1343delinsArgLeuArgCysAlaGluArgGlyArgGluAspIleAlaAspArgLeuIleSerAlaSerLeuPheLeuArgPheLeuCysProAlaIleMetSerProSerLeuPheGlyLeuMetGlnGluTyrProAspGluGlnThrSerArgThrLeuThrLeuIleAlaLysValIleGlnAsnLeuAlaAsnPheSerLysPheThrSerLysGluAspPheLeuGlyPheMetAsnGluPheLeuGluLeuGluTrpGlySerMetGlnGlnPheLeuTyrGluIleSerAsnLeuAspThrLeuThrAsnSerSerSerPheGluGlyTyrIleAspLeuGlyArgGluLeuSerThrLeuHisAlaLeuLeuTrpGluValLeuProGlnLeuSerLysGluAlaLeuLeuLysLeuGlyProLeuProArgLeuLeuAsnAspIleSerThrAlaLeuArgAsnProAsnIleGlnArgGlnProSerArgGlnSerGluArgProArgProGlnProValValLeuArgGlyProSerAlaGluMetGlnGlyTyrMetMetArgAspLeuAsnSerSerIleAspLeuGlnSerPheMetAlaArgGlyLeuAsnSerSerMetAspMetAlaArgLeuProSerProThrLysGluLysProProProProProProGlyGlyGlyLysAspLeuPheTyrValSerArgProProLeuAlaArgSerSerProAlaTyrCysThrSerSerSerAspIleThrGluProGluGlnLysMetLeuSerValAsnLysSerValSerMetLeuAspLeuGlnGlyAspGlyProGlyGlyArgLeuAsnSerSerSerValSerAsnLeuAlaAlaValGlyAspLeuLeuHisSerSerGlnAlaSerLeuThrAlaAlaLeuGlyLeuArgProAlaProAlaGlyArgLeuSerGlnGlySerGlySerSerIleThrAlaAlaGlyMetArgLeuSerGlnMetGlyValThrThrAspGlyValProAlaGlnGlnLeuArgIleProLeuSerPheGlnAsnProLeuPheHisMetAlaAlaAspGlyProGlyProProGlyGlyHisGlyGlyGlyGlyGlyHisGlyProProSerSerHisHisHisHisHisHisHisHisHisHisArgGlyGlyGluProProGlyAspThrPheAlaProPheHisGlyTyrSerLysSerGluAspLeuSerSerGlyValProLysProProAlaAlaSerIleLeuHisSerHisSerTyrSerAspGluPheGlyProSerGlyThrAspPheThrArgArgGlnLeuSerLeuGlnAspAsnLeuGlnHisMetLeuSerProProGlnIleThrIleGlyProGlnArgProAlaProSerGlyProGlyGlyGlySerGlyGlyGlySerGlyGlyGlyGlyGlyGlyGlnProProProLeuGlnArgGlyLysSerGlnGlnLeuThrValSerAlaAlaGlnLysProArgProSerSerGlyAsnLeuLeuGlnSerProGluProSerTyrGlyProAlaArgProArgGlnGlnSerLeuSerLysGluGlySerIleGlyGlySerGlyGlySerGlyGlyGlyGlyGlyGlyGlyLeuLysProSerIleThrLysGlnHisSerGlnThrProSerThrLeuAsnProThrMetProAlaSerGluArgThrValAlaTrpValSerAsnMetProHisLeuSerAlaAspIleGluSerAlaHisIleGluArgGluGluTyrLysLeuLysGluTyrSerLysSerMetAspGluSerArgLeuAspArgValLysGluTyrGluGluGluIleHisSerLeuLysGluArgLeuHisMetSerAsnArgLysLeuGluGluTyrGluArgArgLeuLeuSerGlnGluGluGlnThrSerLysIleLeuMetGlnTyrGlnAlaArgLeuGluGlnSerGluLysArgLeuArgGlnGlnGlnAlaGluLysAspSerGlnIleLysSerIleIleGlyArgLeuMetLeuValGluGluGluLeuArgArgAspHisProAlaMetAlaGluProLeuProGluProLysLysArgLeuLeuAspAlaGlnGluArgGlnLeuProProLeuGlyProThrAsnProArgValThrLeuAlaProProTrpAsnGlyLeuAlaProProAlaProProProProProArgLeuGlnIleThrGluAsnGlyGluPheArgAsnThrAlaAspHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696812", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646630.1:c.1715G>A" }, "RefSeq": { "hgvs": "NM_006772.3:c.1715G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496007.1:p.Trp572Ter" }, "RefSeq": { "hgvs": "NP_006763.2:p.Trp572Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 329, "endIntronDirection": "-", "endIntronOffset": 3285, "referenceAllele": "C", "start": 329, "startIntronDirection": "-", "startIntronOffset": 3286 } ], "gene": "http://reg.genome.network/gene/GN053831", "geneNCBI_id": 112390310, "geneSymbol": "SYNGAP1-AS1", "hgvs": [ "NR_174954.1:n.330-3286C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS785077" } ], "type": "nucleotide" }