Linked Data
ClinVar Variation Id:
411585
ClinVar RCV Id:
RCV000459972
dbSNP Id:
rs1060503384
gnomAD v2:
6-33409389-G-A
gnomAD v4:
6-33441612-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33441612G>A , CM000668.2:g.33441612G>A | GRCh38 |
| NC_000006.11:g.33409389G>A , CM000668.1:g.33409389G>A | GRCh37 |
| NC_000006.10:g.33517367G>A | NCBI36 |
| NG_016137.1:g.26543G>A | |
| NG_016137.2:g.26543G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682587.1:c.1889G>A (SYNGAP1) | ENSP00000507403.1:p.Arg630Gln | |
| ENST00000418600.7:c.2147G>A (SYNGAP1) | ENSP00000403636.3:p.Arg716Gln | |
| ENST00000449372.7:c.2147G>A (SYNGAP1) | ENSP00000416519.4:p.Arg716Gln | |
| ENST00000629380.3:c.2147G>A (SYNGAP1) | ENSP00000486463.1:p.Arg716Gln | |
| ENST00000638142.2:c.*544G>A (SYNGAP1) | ENSP00000490803.1:n.*544G>A | |
| ENST00000644458.1:c.2147G>A (SYNGAP1) | ENSP00000495541.1:p.Arg716Gln | |
| ENST00000645250.1:c.1970G>A (SYNGAP1) | ENSP00000494861.1:p.Arg657Gln | |
| ENST00000646630.1:c.2147G>A (SYNGAP1) MANE Select | ENSP00000496007.1:p.Arg716Gln | |
| ENST00000293748.9:c.2102G>A (SYNGAP1) | ENSP00000293748.6:p.Arg701Gln | |
| ENST00000418600.6:c.2147G>A (SYNGAP1) | ENSP00000403636.3:p.Arg716Gln | |
| ENST00000428982.4:c.1970G>A (SYNGAP1) | ENSP00000412475.2:p.Arg657Gln | |
| ENST00000449372.6:c.2147G>A (SYNGAP1) | ENSP00000416519.3:p.Arg716Gln | |
| ENST00000628646.2:c.2147G>A (SYNGAP1) | ENSP00000486431.1:p.Arg716Gln | |
| ENST00000629380.2:c.2147G>A (SYNGAP1) | ENSP00000486463.1:p.Arg716Gln | |
| NM_006772.2:c.2147G>A (SYNGAP1) | NP_006763.2:p.Arg716Gln | |
| NM_001130066.1:c.2147G>A (SYNGAP1) | NP_001123538.1:p.Arg716Gln | |
| NM_001130066.2:c.2147G>A (SYNGAP1) | NP_001123538.1:p.Arg716Gln | |
| NM_006772.3:c.2147G>A (SYNGAP1) MANE Select | NP_006763.2:p.Arg716Gln | |
| NR_174954.1:n.330-4131C>T (SYNGAP1-AS1) |