Revel Score:
ENST00000389048 (MANE Select)
0.021
ENST00000431873
0.021
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99837607 (NFE)
Genomes Max Group AF
0.99355557 (NFE)
Exomes Max Group AF
0.99833238 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193706T>C , CM000664.2:g.29193706T>C | GRCh38 |
| NC_000002.11:g.29416572T>C , CM000664.1:g.29416572T>C | GRCh37 |
| NC_000002.10:g.29270076T>C | NCBI36 |
| NG_009445.1:g.732861A>G , LRG_488:g.732861A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3222T>C (CLIP4) | ENSP00000508948.1:n.1923-3222T>C | |
| ENST00000389048.8:c.4381A>G (ALK) MANE Select | ENSP00000373700.3:p.Ile1461Val | |
| ENST00000431873.6:c.1608A>G (ALK) | ||
| ENST00000638605.1:n.1258A>G (ALK) | ||
| ENST00000642122.1:c.1177A>G (ALK) | ENSP00000493203.1:p.Ile393Val | |
| ENST00000389048.7:c.4381A>G (ALK) | ENSP00000373700.3:p.Ile1461Val | |
| ENST00000431873.5:c.1261A>G (ALK) | ENSP00000414027.2:p.Ile421Val | |
| ENST00000618119.4:c.3250A>G (ALK) | ENSP00000482733.1:p.Ile1084Val | |
| NM_004304.4:c.4381A>G (ALK) | NP_004295.2:p.Ile1461Val | |
| NM_001353765.1:c.1177A>G (ALK) | NP_001340694.1:p.Ile393Val | |
| XM_024452778.1:c.1534A>G (ALK) | XP_024308546.1:p.Ile512Val | |
| XM_024452779.1:c.1177A>G (ALK) | XP_024308547.1:p.Ile393Val | |
| NM_004304.5:c.4381A>G (ALK) MANE Select | NP_004295.2:p.Ile1461Val | |
| NM_001353765.2:c.1177A>G (ALK) | NP_001340694.1:p.Ile393Val |