Linked Data
ClinVar Variation Id:
224094
dbSNP Id:
rs869312674
gnomAD v4:
6-33446569-G-A
PubMed:
PMID:25167861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33446569G>A , CM000668.2:g.33446569G>A | GRCh38 |
| NC_000006.11:g.33414346G>A , CM000668.1:g.33414346G>A | GRCh37 |
| NC_000006.10:g.33522324G>A | NCBI36 |
| NG_016137.1:g.31500G>A | |
| NG_016137.2:g.31500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.3325-6G>A (SYNGAP1) | ENSP00000507403.1:n.3325-6G>A | |
| ENST00000418600.7:c.3583-6G>A (SYNGAP1) | ENSP00000403636.3:n.3583-6G>A | |
| ENST00000449372.7:c.3541-12G>A (SYNGAP1) | ENSP00000416519.4:n.3541-12G>A | |
| ENST00000629380.3:c.3583-6G>A (SYNGAP1) | ENSP00000486463.1:n.3583-6G>A | |
| ENST00000644458.1:c.3583-6G>A (SYNGAP1) | ENSP00000495541.1:n.3583-6G>A | |
| ENST00000645250.1:c.3406-6G>A (SYNGAP1) | ENSP00000494861.1:n.3406-6G>A | |
| ENST00000646630.1:c.3583-6G>A (SYNGAP1) MANE Select | ENSP00000496007.1:n.3583-6G>A | |
| ENST00000293748.9:c.3538-6G>A (SYNGAP1) | ENSP00000293748.6:n.3538-6G>A | |
| ENST00000418600.6:c.3583-6G>A (SYNGAP1) | ENSP00000403636.3:n.3583-6G>A | |
| ENST00000428982.4:c.3406-6G>A (SYNGAP1) | ENSP00000412475.2:n.3406-6G>A | |
| ENST00000449372.6:c.3541-12G>A (SYNGAP1) | ENSP00000416519.3:n.3541-12G>A | |
| ENST00000628646.2:c.3583-6G>A (SYNGAP1) | ENSP00000486431.1:n.3583-6G>A | |
| ENST00000629380.2:c.3583-6G>A (SYNGAP1) | ENSP00000486463.1:n.3583-6G>A | |
| NM_006772.2:c.3583-6G>A (SYNGAP1) | NP_006763.2:n.3583-6G>A | |
| NM_001130066.1:c.3541-12G>A (SYNGAP1) | NP_001123538.1:n.3541-12G>A | |
| NM_001130066.2:c.3541-12G>A (SYNGAP1) | NP_001123538.1:n.3541-12G>A | |
| NM_006772.3:c.3583-6G>A (SYNGAP1) MANE Select | NP_006763.2:n.3583-6G>A | |
| NR_174954.1:n.329+37C>T (SYNGAP1-AS1) |