COSMIC:
COSM5468637 (not active)
Revel Score:
ENST00000435626
0.055
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.01877659 (SAS)
Exomes Max Group AF
0.01877659 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31816809G>A , CM000668.2:g.31816809G>A | GRCh38 |
| NC_000006.11:g.31784586G>A , CM000668.1:g.31784586G>A | GRCh37 |
| NC_000006.10:g.31892565G>A | NCBI36 |
| NG_011855.1:g.3250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375651.7:c.1053G>A (HSPA1A) MANE Select | ENSP00000364802.5:p.Gln351= | |
| ENST00000375651.6:c.1053G>A (HSPA1A) | ENSP00000364802.5:p.Gln351= | |
| ENST00000608703.1:c.558G>A (HSPA1A) | ENSP00000477378.1:p.Gln186= | |
| NM_005345.5:c.1053G>A (HSPA1A) | NP_005336.3:p.Gln351= | |
| XM_005249073.2:c.-14+4204C>T (HSPA1L) | XP_005249130.1:n.-14+4204C>T | |
| XM_011514566.1:c.-14+4204C>T (HSPA1L) | XP_011512868.1:n.-14+4204C>T | |
| NM_005345.6:c.1053G>A (HSPA1A) MANE Select | NP_005336.3:p.Gln351= |