Linked Data
ClinVar Variation Id:
537002
ClinVar RCV Id:
RCV000645741
dbSNP Id:
rs765011916
ExAC:
6:33405994 G / A
gnomAD v2:
6-33405994-G-A
gnomAD v3:
6-33438217-G-A
gnomAD v4:
6-33438217-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33438217G>A , CM000668.2:g.33438217G>A | GRCh38 |
| NC_000006.11:g.33405994G>A , CM000668.1:g.33405994G>A | GRCh37 |
| NC_000006.10:g.33513972G>A | NCBI36 |
| NG_016137.1:g.23148G>A | |
| NG_016137.2:g.23148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.1054G>A (SYNGAP1) | ENSP00000507403.1:p.Ala352Thr | |
| ENST00000418600.7:c.1312G>A (SYNGAP1) | ENSP00000403636.3:p.Ala438Thr | |
| ENST00000449372.7:c.1312G>A (SYNGAP1) | ENSP00000416519.4:p.Ala438Thr | |
| ENST00000629380.3:c.1312G>A (SYNGAP1) | ENSP00000486463.1:p.Ala438Thr | |
| ENST00000638142.2:c.1312G>A (SYNGAP1) | ENSP00000490803.1:p.Ala438Thr | |
| ENST00000644458.1:c.1312G>A (SYNGAP1) | ENSP00000495541.1:p.Ala438Thr | |
| ENST00000645250.1:c.1135G>A (SYNGAP1) | ENSP00000494861.1:p.Ala379Thr | |
| ENST00000646630.1:c.1312G>A (SYNGAP1) MANE Select | ENSP00000496007.1:p.Ala438Thr | |
| ENST00000293748.9:c.1267G>A (SYNGAP1) | ENSP00000293748.6:p.Ala423Thr | |
| ENST00000418600.6:c.1312G>A (SYNGAP1) | ENSP00000403636.3:p.Ala438Thr | |
| ENST00000428982.4:c.1135G>A (SYNGAP1) | ENSP00000412475.2:p.Ala379Thr | |
| ENST00000449372.6:c.1312G>A (SYNGAP1) | ENSP00000416519.3:p.Ala438Thr | |
| ENST00000479510.2:n.1507G>A (SYNGAP1) | ||
| ENST00000628646.2:c.1312G>A (SYNGAP1) | ENSP00000486431.1:p.Ala438Thr | |
| ENST00000629380.2:c.1312G>A (SYNGAP1) | ENSP00000486463.1:p.Ala438Thr | |
| NM_006772.2:c.1312G>A (SYNGAP1) | NP_006763.2:p.Ala438Thr | |
| NM_001130066.1:c.1312G>A (SYNGAP1) | NP_001123538.1:p.Ala438Thr | |
| NM_001130066.2:c.1312G>A (SYNGAP1) | NP_001123538.1:p.Ala438Thr | |
| NM_006772.3:c.1312G>A (SYNGAP1) MANE Select | NP_006763.2:p.Ala438Thr | |
| NR_174954.1:n.330-736C>T (SYNGAP1-AS1) |