Linked Data
ClinVar Variation Id:
839503
ClinVar RCV Id:
RCV001041275
dbSNP Id:
rs989713108
gnomAD v2:
6-33410921-G-A
gnomAD v4:
6-33443144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33443144G>A , CM000668.2:g.33443144G>A | GRCh38 |
| NC_000006.11:g.33410921G>A , CM000668.1:g.33410921G>A | GRCh37 |
| NC_000006.10:g.33518899G>A | NCBI36 |
| NG_016137.1:g.28075G>A | |
| NG_016137.2:g.28075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.2334G>A (SYNGAP1) | ENSP00000507403.1:p.Ala778= | |
| ENST00000418600.7:c.2592G>A (SYNGAP1) | ENSP00000403636.3:p.Ala864= | |
| ENST00000449372.7:c.2550G>A (SYNGAP1) | ENSP00000416519.4:p.Ala850= | |
| ENST00000629380.3:c.2592G>A (SYNGAP1) | ENSP00000486463.1:p.Ala864= | |
| ENST00000644458.1:c.2592G>A (SYNGAP1) | ENSP00000495541.1:p.Ala864= | |
| ENST00000645250.1:c.2415G>A (SYNGAP1) | ENSP00000494861.1:p.Ala805= | |
| ENST00000646630.1:c.2592G>A (SYNGAP1) MANE Select | ENSP00000496007.1:p.Ala864= | |
| ENST00000293748.9:c.2547G>A (SYNGAP1) | ENSP00000293748.6:p.Ala849= | |
| ENST00000418600.6:c.2592G>A (SYNGAP1) | ENSP00000403636.3:p.Ala864= | |
| ENST00000428982.4:c.2415G>A (SYNGAP1) | ENSP00000412475.2:p.Ala805= | |
| ENST00000449372.6:c.2550G>A (SYNGAP1) | ENSP00000416519.3:p.Ala850= | |
| ENST00000628646.2:c.2592G>A (SYNGAP1) | ENSP00000486431.1:p.Ala864= | |
| ENST00000629380.2:c.2592G>A (SYNGAP1) | ENSP00000486463.1:p.Ala864= | |
| NM_006772.2:c.2592G>A (SYNGAP1) | NP_006763.2:p.Ala864= | |
| NM_001130066.1:c.2550G>A (SYNGAP1) | NP_001123538.1:p.Ala850= | |
| NM_001130066.2:c.2550G>A (SYNGAP1) | NP_001123538.1:p.Ala850= | |
| NM_006772.3:c.2592G>A (SYNGAP1) MANE Select | NP_006763.2:p.Ala864= | |
| NR_174954.1:n.329+3462C>T (SYNGAP1-AS1) |