COSMIC:
COSM3759700 (not active)
Revel Score:
ENST00000273450
0.154
ENST00000472186
0.154
ENST00000452905
0.154
ENST00000393434 (MANE Select)
0.154
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23864252 (MID)
Genomes Max Group AF
0.21802761 (SAS)
Exomes Max Group AF
0.23638701 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.126107216T>C , CM000665.2:g.126107216T>C | GRCh38 |
| NC_000003.11:g.125826059T>C , CM000665.1:g.125826059T>C | GRCh37 |
| NC_000003.10:g.127308749T>C | NCBI36 |
| NG_012260.1:g.78427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393434.7:c.2378A>G (ALDH1L1) MANE Select | ENSP00000377083.3:p.Asp793Gly | |
| ENST00000273450.7:c.2408A>G (ALDH1L1) | ENSP00000273450.3:p.Asp803Gly | |
| ENST00000393431.6:c.*609A>G (ALDH1L1) | ENSP00000377081.2:n.*609A>G | |
| ENST00000393434.6:c.2378A>G (ALDH1L1) | ENSP00000377083.2:p.Asp793Gly | |
| ENST00000452905.6:c.2075A>G (ALDH1L1) | ENSP00000395881.2:p.Asp692Gly | |
| ENST00000455064.6:c.*709A>G (ALDH1L1) | ENSP00000414126.3:n.*709A>G | |
| ENST00000462808.1:n.376A>G (ALDH1L1) | ||
| ENST00000467370.5:n.1242A>G (ALDH1L1) | ||
| ENST00000472186.5:c.2378A>G (ALDH1L1) | ENSP00000420293.1:p.Asp793Gly | |
| NM_001270364.1:c.2408A>G (ALDH1L1) | NP_001257293.1:p.Asp803Gly | |
| NM_001270365.1:c.2075A>G (ALDH1L1) | NP_001257294.1:p.Asp692Gly | |
| NM_012190.3:c.2378A>G (ALDH1L1) | NP_036322.2:p.Asp793Gly | |
| NR_046602.1:n.252-668T>C (ALDH1L1-AS1) | ||
| NR_072979.1:n.2477A>G (ALDH1L1) | ||
| XM_006713481.2:c.2378A>G (ALDH1L1) | XP_006713544.1:p.Asp793Gly | |
| XM_011512355.1:c.2378A>G (ALDH1L1) | XP_011510657.1:p.Asp793Gly | |
| XM_011512356.1:c.2270A>G (ALDH1L1) | XP_011510658.1:p.Asp757Gly | |
| XM_006713481.3:c.2378A>G (ALDH1L1) | XP_006713544.1:p.Asp793Gly | |
| XM_017005613.2:c.2186A>G (ALDH1L1) | XP_016861102.1:p.Asp729Gly | |
| XM_017005614.2:c.2156A>G (ALDH1L1) | XP_016861103.1:p.Asp719Gly | |
| XM_024453325.1:c.2378A>G (ALDH1L1) | XP_024309093.1:p.Asp793Gly | |
| NM_001270365.2:c.2075A>G (ALDH1L1) | NP_001257294.1:p.Asp692Gly | |
| NM_012190.4:c.2378A>G (ALDH1L1) MANE Select | NP_036322.2:p.Asp793Gly | |
| NR_072979.2:n.2261A>G (ALDH1L1) | ||
| NM_001270364.2:c.2408A>G (ALDH1L1) | NP_001257293.1:p.Asp803Gly |