COSMIC:
COSM1130802 (not active)
COSM5618206 (not active)
Revel Score:
ENST00000389048 (MANE Select)
0.088
ENST00000431873
0.088
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72096254 (EAS)
Genomes Max Group AF
0.71612878 (EAS)
Exomes Max Group AF
0.71950163 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193615T>C , CM000664.2:g.29193615T>C | GRCh38 |
| NC_000002.11:g.29416481T>C , CM000664.1:g.29416481T>C | GRCh37 |
| NC_000002.10:g.29269985T>C | NCBI36 |
| NG_009445.1:g.732952A>G , LRG_488:g.732952A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3313T>C (CLIP4) | ENSP00000508948.1:n.1923-3313T>C | |
| ENST00000389048.8:c.4472A>G (ALK) MANE Select | ENSP00000373700.3:p.Lys1491Arg | |
| ENST00000431873.6:c.1699A>G (ALK) | ||
| ENST00000638605.1:n.1349A>G (ALK) | ||
| ENST00000642122.1:c.1268A>G (ALK) | ENSP00000493203.1:p.Lys423Arg | |
| ENST00000389048.7:c.4472A>G (ALK) | ENSP00000373700.3:p.Lys1491Arg | |
| ENST00000431873.5:c.1352A>G (ALK) | ENSP00000414027.2:p.Lys451Arg | |
| ENST00000618119.4:c.3341A>G (ALK) | ENSP00000482733.1:p.Lys1114Arg | |
| NM_004304.4:c.4472A>G (ALK) | NP_004295.2:p.Lys1491Arg | |
| NM_001353765.1:c.1268A>G (ALK) | NP_001340694.1:p.Lys423Arg | |
| XM_024452778.1:c.1625A>G (ALK) | XP_024308546.1:p.Lys542Arg | |
| XM_024452779.1:c.1268A>G (ALK) | XP_024308547.1:p.Lys423Arg | |
| NM_004304.5:c.4472A>G (ALK) MANE Select | NP_004295.2:p.Lys1491Arg | |
| NM_001353765.2:c.1268A>G (ALK) | NP_001340694.1:p.Lys423Arg |