Revel Score:
ENST00000389048 (MANE Select)
0.729
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018729 (AFR)
Genomes Max Group AF
0.00022175 (AFR)
Exomes Max Group AF
0.00007714 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193894G>A , CM000664.2:g.29193894G>A | GRCh38 |
| NC_000002.11:g.29416760G>A , CM000664.1:g.29416760G>A | GRCh37 |
| NC_000002.10:g.29270264G>A | NCBI36 |
| NG_009445.1:g.732673C>T , LRG_488:g.732673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3034G>A (CLIP4) | ENSP00000508948.1:n.1923-3034G>A | |
| ENST00000389048.8:c.4193C>T (ALK) MANE Select | ENSP00000373700.3:p.Pro1398Leu | |
| ENST00000431873.6:c.1420C>T (ALK) | ||
| ENST00000638605.1:n.1070C>T (ALK) | ||
| ENST00000642122.1:c.989C>T (ALK) | ENSP00000493203.1:p.Pro330Leu | |
| ENST00000389048.7:c.4193C>T (ALK) | ENSP00000373700.3:p.Pro1398Leu | |
| ENST00000431873.5:c.1073C>T (ALK) | ENSP00000414027.2:p.Pro358Leu | |
| ENST00000618119.4:c.3062C>T (ALK) | ENSP00000482733.1:p.Pro1021Leu | |
| NM_004304.4:c.4193C>T (ALK) | NP_004295.2:p.Pro1398Leu | |
| NM_001353765.1:c.989C>T (ALK) | NP_001340694.1:p.Pro330Leu | |
| XM_024452778.1:c.1346C>T (ALK) | XP_024308546.1:p.Pro449Leu | |
| XM_024452779.1:c.989C>T (ALK) | XP_024308547.1:p.Pro330Leu | |
| NM_004304.5:c.4193C>T (ALK) MANE Select | NP_004295.2:p.Pro1398Leu | |
| NM_001353765.2:c.989C>T (ALK) | NP_001340694.1:p.Pro330Leu |