Revel Score:
ENST00000389048 (MANE Select)
0.070
ENST00000431873
0.070
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193251C>A , CM000664.2:g.29193251C>A | GRCh38 |
| NC_000002.11:g.29416117C>A , CM000664.1:g.29416117C>A | GRCh37 |
| NC_000002.10:g.29269621C>A | NCBI36 |
| NG_009445.1:g.733316G>T , LRG_488:g.733316G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3677C>A (CLIP4) | ENSP00000508948.1:n.1923-3677C>A | |
| ENST00000389048.8:c.4836G>T (ALK) MANE Select | ENSP00000373700.3:p.Lys1612Asn | |
| ENST00000431873.6:c.2063G>T (ALK) | ||
| ENST00000638605.1:n.1713G>T (ALK) | ||
| ENST00000642122.1:c.1632G>T (ALK) | ENSP00000493203.1:p.Lys544Asn | |
| ENST00000389048.7:c.4836G>T (ALK) | ENSP00000373700.3:p.Lys1612Asn | |
| ENST00000431873.5:c.1716G>T (ALK) | ENSP00000414027.2:p.Lys572Asn | |
| ENST00000618119.4:c.3705G>T (ALK) | ENSP00000482733.1:p.Lys1235Asn | |
| NM_004304.4:c.4836G>T (ALK) | NP_004295.2:p.Lys1612Asn | |
| NM_001353765.1:c.1632G>T (ALK) | NP_001340694.1:p.Lys544Asn | |
| XM_024452778.1:c.1989G>T (ALK) | XP_024308546.1:p.Lys663Asn | |
| XM_024452779.1:c.1632G>T (ALK) | XP_024308547.1:p.Lys544Asn | |
| NM_004304.5:c.4836G>T (ALK) MANE Select | NP_004295.2:p.Lys1612Asn | |
| NM_001353765.2:c.1632G>T (ALK) | NP_001340694.1:p.Lys544Asn |