Linked Data
ClinVar Variation Id:
2167465
ClinVar RCV Id:
RCV003092128
dbSNP Id:
rs760948707
ExAC:
6:33410986 C / T
gnomAD v2:
6-33410986-C-T
gnomAD v4:
6-33443209-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33443209C>T , CM000668.2:g.33443209C>T | GRCh38 |
| NC_000006.11:g.33410986C>T , CM000668.1:g.33410986C>T | GRCh37 |
| NC_000006.10:g.33518964C>T | NCBI36 |
| NG_016137.1:g.28140C>T | |
| NG_016137.2:g.28140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.2399C>T (SYNGAP1) | ENSP00000507403.1:p.Ala800Val | |
| ENST00000418600.7:c.2657C>T (SYNGAP1) | ENSP00000403636.3:p.Ala886Val | |
| ENST00000449372.7:c.2615C>T (SYNGAP1) | ENSP00000416519.4:p.Ala872Val | |
| ENST00000629380.3:c.2657C>T (SYNGAP1) | ENSP00000486463.1:p.Ala886Val | |
| ENST00000644458.1:c.2657C>T (SYNGAP1) | ENSP00000495541.1:p.Ala886Val | |
| ENST00000645250.1:c.2480C>T (SYNGAP1) | ENSP00000494861.1:p.Ala827Val | |
| ENST00000646630.1:c.2657C>T (SYNGAP1) MANE Select | ENSP00000496007.1:p.Ala886Val | |
| ENST00000293748.9:c.2612C>T (SYNGAP1) | ENSP00000293748.6:p.Ala871Val | |
| ENST00000418600.6:c.2657C>T (SYNGAP1) | ENSP00000403636.3:p.Ala886Val | |
| ENST00000428982.4:c.2480C>T (SYNGAP1) | ENSP00000412475.2:p.Ala827Val | |
| ENST00000449372.6:c.2615C>T (SYNGAP1) | ENSP00000416519.3:p.Ala872Val | |
| ENST00000628646.2:c.2657C>T (SYNGAP1) | ENSP00000486431.1:p.Ala886Val | |
| ENST00000629380.2:c.2657C>T (SYNGAP1) | ENSP00000486463.1:p.Ala886Val | |
| NM_006772.2:c.2657C>T (SYNGAP1) | NP_006763.2:p.Ala886Val | |
| NM_001130066.1:c.2615C>T (SYNGAP1) | NP_001123538.1:p.Ala872Val | |
| NM_001130066.2:c.2615C>T (SYNGAP1) | NP_001123538.1:p.Ala872Val | |
| NM_006772.3:c.2657C>T (SYNGAP1) MANE Select | NP_006763.2:p.Ala886Val | |
| NR_174954.1:n.329+3397G>A (SYNGAP1-AS1) |