Linked Data
ClinVar Variation Id:
1995504
ClinVar RCV Id:
RCV002796632
dbSNP Id:
rs747272398
ExAC:
6:33411253 C / T
gnomAD v2:
6-33411253-C-T
gnomAD v3:
6-33443476-C-T
gnomAD v4:
6-33443476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33443476C>T , CM000668.2:g.33443476C>T | GRCh38 |
| NC_000006.11:g.33411253C>T , CM000668.1:g.33411253C>T | GRCh37 |
| NC_000006.10:g.33519231C>T | NCBI36 |
| NG_016137.1:g.28407C>T | |
| NG_016137.2:g.28407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.2666C>T (SYNGAP1) | ENSP00000507403.1:p.Thr889Ile | |
| ENST00000418600.7:c.2924C>T (SYNGAP1) | ENSP00000403636.3:p.Thr975Ile | |
| ENST00000449372.7:c.2882C>T (SYNGAP1) | ENSP00000416519.4:p.Thr961Ile | |
| ENST00000629380.3:c.2924C>T (SYNGAP1) | ENSP00000486463.1:p.Thr975Ile | |
| ENST00000644458.1:c.2924C>T (SYNGAP1) | ENSP00000495541.1:p.Thr975Ile | |
| ENST00000645250.1:c.2747C>T (SYNGAP1) | ENSP00000494861.1:p.Thr916Ile | |
| ENST00000646630.1:c.2924C>T (SYNGAP1) MANE Select | ENSP00000496007.1:p.Thr975Ile | |
| ENST00000293748.9:c.2879C>T (SYNGAP1) | ENSP00000293748.6:p.Thr960Ile | |
| ENST00000418600.6:c.2924C>T (SYNGAP1) | ENSP00000403636.3:p.Thr975Ile | |
| ENST00000428982.4:c.2747C>T (SYNGAP1) | ENSP00000412475.2:p.Thr916Ile | |
| ENST00000449372.6:c.2882C>T (SYNGAP1) | ENSP00000416519.3:p.Thr961Ile | |
| ENST00000628646.2:c.2924C>T (SYNGAP1) | ENSP00000486431.1:p.Thr975Ile | |
| ENST00000629380.2:c.2924C>T (SYNGAP1) | ENSP00000486463.1:p.Thr975Ile | |
| NM_006772.2:c.2924C>T (SYNGAP1) | NP_006763.2:p.Thr975Ile | |
| NM_001130066.1:c.2882C>T (SYNGAP1) | NP_001123538.1:p.Thr961Ile | |
| NM_001130066.2:c.2882C>T (SYNGAP1) | NP_001123538.1:p.Thr961Ile | |
| NM_006772.3:c.2924C>T (SYNGAP1) MANE Select | NP_006763.2:p.Thr975Ile | |
| NR_174954.1:n.329+3130G>A (SYNGAP1-AS1) |