Linked Data
ClinVar Variation Id:
130530
dbSNP Id:
rs191549504
ExAC:
6:33411673 T / C
gnomAD v2:
6-33411673-T-C
gnomAD v3:
6-33443896-T-C
gnomAD v4:
6-33443896-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33443896T>C , CM000668.2:g.33443896T>C | GRCh38 |
| NC_000006.11:g.33411673T>C , CM000668.1:g.33411673T>C | GRCh37 |
| NC_000006.10:g.33519651T>C | NCBI36 |
| NG_016137.1:g.28827T>C | |
| NG_016137.2:g.28827T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.3086T>C (SYNGAP1) | ENSP00000507403.1:p.Ile1029Thr | |
| ENST00000418600.7:c.3344T>C (SYNGAP1) | ENSP00000403636.3:p.Ile1115Thr | |
| ENST00000449372.7:c.3302T>C (SYNGAP1) | ENSP00000416519.4:p.Ile1101Thr | |
| ENST00000629380.3:c.3344T>C (SYNGAP1) | ENSP00000486463.1:p.Ile1115Thr | |
| ENST00000644458.1:c.3344T>C (SYNGAP1) | ENSP00000495541.1:p.Ile1115Thr | |
| ENST00000645250.1:c.3167T>C (SYNGAP1) | ENSP00000494861.1:p.Ile1056Thr | |
| ENST00000646630.1:c.3344T>C (SYNGAP1) MANE Select | ENSP00000496007.1:p.Ile1115Thr | |
| ENST00000293748.9:c.3299T>C (SYNGAP1) | ENSP00000293748.6:p.Ile1100Thr | |
| ENST00000418600.6:c.3344T>C (SYNGAP1) | ENSP00000403636.3:p.Ile1115Thr | |
| ENST00000428982.4:c.3167T>C (SYNGAP1) | ENSP00000412475.2:p.Ile1056Thr | |
| ENST00000449372.6:c.3302T>C (SYNGAP1) | ENSP00000416519.3:p.Ile1101Thr | |
| ENST00000628646.2:c.3344T>C (SYNGAP1) | ENSP00000486431.1:p.Ile1115Thr | |
| ENST00000629380.2:c.3344T>C (SYNGAP1) | ENSP00000486463.1:p.Ile1115Thr | |
| NM_006772.2:c.3344T>C (SYNGAP1) | NP_006763.2:p.Ile1115Thr | |
| NM_001130066.1:c.3302T>C (SYNGAP1) | NP_001123538.1:p.Ile1101Thr | |
| NM_001130066.2:c.3302T>C (SYNGAP1) | NP_001123538.1:p.Ile1101Thr | |
| NM_006772.3:c.3344T>C (SYNGAP1) MANE Select | NP_006763.2:p.Ile1115Thr | |
| NR_174954.1:n.329+2710A>G (SYNGAP1-AS1) |