{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1620010205", "communityStandardTitle": [ "NM_006772.3(SYNGAP1):c.472C= (p.Gln158=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1085307871", "rs": 1085307871 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 33432769, "referenceAllele": "C", "start": 33432768 } ], "hgvs": [ "NC_000006.12:g.33432769C=", "CM000668.2:g.33432769C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 33400546, "referenceAllele": "C", "start": 33400545 } ], "hgvs": [ "NC_000006.11:g.33400546C=", "CM000668.1:g.33400546C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 33508524, "referenceAllele": "C", "start": 33508523 } ], "hgvs": [ "NC_000006.10:g.33508524C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "C", "end": 17700, "referenceAllele": "C", "start": 17699 } ], "hgvs": [ "NG_016137.1:g.17700C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS002971" }, { "coordinates": [ { "allele": "C", "end": 17700, "referenceAllele": "C", "start": 17699 } ], "hgvs": [ "NG_016137.2:g.17700C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS616213" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 261, "referenceAllele": "C", "start": 260 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000682587.1:c.214C=" ], "proteinEffect": { "hgvs": "ENSP00000507403.1:p.Gln72=" }, "referenceSequence": "http://reg.genome.network/refseq/RS827577" }, { "coordinates": [ { "allele": "C", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000418600.7:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000403636.3:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS754750" }, { "coordinates": [ { "allele": "C", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000449372.7:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000416519.4:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756228" }, { "coordinates": [ { "allele": "C", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000629380.3:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000486463.1:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS762522" }, { "coordinates": [ { "allele": "C", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000638142.2:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000490803.1:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS764373" }, { "coordinates": [ { "allele": "C", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000644458.1:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000495541.1:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS767823" }, { "coordinates": [ { "allele": "C", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000645250.1:c.295C=" ], "proteinEffect": { "hgvs": "ENSP00000494861.1:p.Gln99=" }, "referenceSequence": "http://reg.genome.network/refseq/RS768246" }, { "coordinates": [ { "allele": "C", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000646630.1:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000496007.1:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS768980", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646630.1:c.472C=" }, "RefSeq": { "hgvs": "NM_006772.3:c.472C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496007.1:p.Gln158=" }, "RefSeq": { "hgvs": "NP_006763.2:p.Gln158=" } } } }, { "coordinates": [ { "allele": "C", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000293748.9:c.427C=" ], "proteinEffect": { "hgvs": "ENSP00000293748.6:p.Gln143=" }, "referenceSequence": "http://reg.genome.network/refseq/RS253902" }, { "coordinates": [ { "allele": "C", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000418600.6:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000403636.3:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS285478" }, { "coordinates": [ { "allele": "C", "end": 475, "referenceAllele": "C", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000428982.4:c.295C=" ], "proteinEffect": { "hgvs": "ENSP00000412475.2:p.Gln99=" }, "referenceSequence": "http://reg.genome.network/refseq/RS290451" }, { "coordinates": [ { "allele": "C", "end": 482, "referenceAllele": "C", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000449372.6:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000416519.3:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS300189" }, { "coordinates": [ { "allele": "C", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000479510.2:n.667C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS319874" }, { "coordinates": [ { "allele": "C", "end": 472, "referenceAllele": "C", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000628646.2:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000486431.1:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407085" }, { "coordinates": [ { "allele": "C", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "ENST00000629380.2:c.472C=" ], "proteinEffect": { "hgvs": "ENSP00000486463.1:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS407215" }, { "@id": "http://reg.genome.network/allele/PA3072655929", "coordinates": [ { "allele": "C", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "NM_006772.2:c.472C=" ], "proteinEffect": { "hgvs": "NP_006763.2:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS031758" }, { "coordinates": [ { "allele": "C", "end": 667, "referenceAllele": "C", "start": 666 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "NM_001130066.1:c.472C=" ], "proteinEffect": { "hgvs": "NP_001123538.1:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511444" }, { "coordinates": [ { "allele": "C", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "NM_001130066.2:c.472C=" ], "proteinEffect": { "hgvs": "NP_001123538.1:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS677080" }, { "@id": "http://reg.genome.network/allele/PA3072655929", "coordinates": [ { "allele": "C", "end": 672, "referenceAllele": "C", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN011497", "geneNCBI_id": 8831, "geneSymbol": "SYNGAP1", "hgvs": [ "NM_006772.3:c.472C=" ], "proteinEffect": { "hgvs": "NP_006763.2:p.Gln158=" }, "referenceSequence": "http://reg.genome.network/refseq/RS696812", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000646630.1:c.472C=" }, "RefSeq": { "hgvs": "NM_006772.3:c.472C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496007.1:p.Gln158=" }, "RefSeq": { "hgvs": "NP_006763.2:p.Gln158=" } } } } ], "type": "nucleotide" }