COSMIC:
COSN14796592 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62899648 (EAS)
Genomes Max Group AF
0.5720883 (EAS)
Exomes Max Group AF
0.63450446 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73703866T>C , CM000669.2:g.73703866T>C | GRCh38 |
| NC_000007.13:g.73118196T>C , CM000669.1:g.73118196T>C | GRCh37 |
| NC_000007.12:g.72756132T>C | NCBI36 |
| NG_013360.1:g.20822A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222812.8:c.467-38A>G (STX1A) MANE Select | ENSP00000222812.3:n.467-38A>G | |
| ENST00000222812.7:c.467-38A>G (STX1A) | ENSP00000222812.3:n.467-38A>G | |
| ENST00000395154.7:c.467-38A>G (STX1A) | ENSP00000378583.3:n.467-38A>G | |
| ENST00000395155.3:c.467-38A>G (STX1A) | ENSP00000378584.3:n.467-38A>G | |
| ENST00000395156.7:c.467-38A>G (STX1A) | ENSP00000378585.3:n.467-38A>G | |
| ENST00000436944.5:c.*782T>C (BUD23) | ENSP00000391410.2:n.*782T>C | |
| ENST00000461441.5:n.45-38A>G (STX1A) | ||
| ENST00000470878.5:n.616-38A>G (STX1A) | ||
| ENST00000480126.5:n.113-38A>G (STX1A) | ||
| ENST00000491427.5:n.350-38A>G (STX1A) | ||
| ENST00000494245.1:n.500-38A>G (STX1A) | ||
| ENST00000496216.5:n.376-38A>G (STX1A) | ||
| ENST00000497980.5:n.190A>G (STX1A) | ||
| NM_001165903.1:c.467-38A>G (STX1A) | NP_001159375.1:n.467-38A>G | |
| NM_004603.3:c.467-38A>G (STX1A) | NP_004594.1:n.467-38A>G | |
| XM_011516541.1:c.380-38A>G (STX1A) | XP_011514843.1:n.380-38A>G | |
| XR_242263.1:n.538-38A>G (STX1A) | ||
| XR_927527.1:n.538-38A>G (STX1A) | ||
| XR_927528.1:n.591-38A>G (STX1A) | ||
| XR_927656.1:n.524+341T>C | ||
| XM_017012567.2:c.467-38A>G (STX1A) | XP_016868056.1:n.467-38A>G | |
| XR_242263.2:n.509-38A>G (STX1A) | ||
| XR_927527.2:n.509-38A>G (STX1A) | ||
| XR_927656.2:n.520+341T>C | ||
| NM_004603.4:c.467-38A>G (STX1A) MANE Select | NP_004594.1:n.467-38A>G | |
| NM_001165903.2:c.467-38A>G (STX1A) | NP_001159375.1:n.467-38A>G |