Revel Score:
ENST00000389048 (MANE Select)
0.041
ENST00000431873
0.041
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008175 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.000083 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193384T>G , CM000664.2:g.29193384T>G | GRCh38 |
| NC_000002.11:g.29416250T>G , CM000664.1:g.29416250T>G | GRCh37 |
| NC_000002.10:g.29269754T>G | NCBI36 |
| NG_009445.1:g.733183A>C , LRG_488:g.733183A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3544T>G (CLIP4) | ENSP00000508948.1:n.1923-3544T>G | |
| ENST00000389048.8:c.4703A>C (ALK) MANE Select | ENSP00000373700.3:p.Glu1568Ala | |
| ENST00000431873.6:c.1930A>C (ALK) | ||
| ENST00000638605.1:n.1580A>C (ALK) | ||
| ENST00000642122.1:c.1499A>C (ALK) | ENSP00000493203.1:p.Glu500Ala | |
| ENST00000389048.7:c.4703A>C (ALK) | ENSP00000373700.3:p.Glu1568Ala | |
| ENST00000431873.5:c.1583A>C (ALK) | ENSP00000414027.2:p.Glu528Ala | |
| ENST00000618119.4:c.3572A>C (ALK) | ENSP00000482733.1:p.Glu1191Ala | |
| NM_004304.4:c.4703A>C (ALK) | NP_004295.2:p.Glu1568Ala | |
| NM_001353765.1:c.1499A>C (ALK) | NP_001340694.1:p.Glu500Ala | |
| XM_024452778.1:c.1856A>C (ALK) | XP_024308546.1:p.Glu619Ala | |
| XM_024452779.1:c.1499A>C (ALK) | XP_024308547.1:p.Glu500Ala | |
| NM_004304.5:c.4703A>C (ALK) MANE Select | NP_004295.2:p.Glu1568Ala | |
| NM_001353765.2:c.1499A>C (ALK) | NP_001340694.1:p.Glu500Ala |