Canonical Allele Identifier: CA1593564

Linked Data

ClinVar Variation Id: 1740836
dbSNP Id: rs775805709
gnomAD v2: 2-29416482-T-G
gnomAD v4: 2-29193616-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29193616T>G , CM000664.2:g.29193616T>G GRCh38
NC_000002.11:g.29416482T>G , CM000664.1:g.29416482T>G GRCh37
NC_000002.10:g.29269986T>G NCBI36
NG_009445.1:g.732951A>C , LRG_488:g.732951A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000689605.1:c.1923-3312T>G (CLIP4) ENSP00000508948.1:n.1923-3312T>G
ENST00000389048.8:c.4471A>C (ALK) MANE Select ENSP00000373700.3:p.Lys1491Gln
ENST00000431873.6:c.1698A>C (ALK)
ENST00000638605.1:n.1348A>C (ALK)
ENST00000642122.1:c.1267A>C (ALK) ENSP00000493203.1:p.Lys423Gln
ENST00000389048.7:c.4471A>C (ALK) ENSP00000373700.3:p.Lys1491Gln
ENST00000431873.5:c.1351A>C (ALK) ENSP00000414027.2:p.Lys451Gln
ENST00000618119.4:c.3340A>C (ALK) ENSP00000482733.1:p.Lys1114Gln
NM_004304.4:c.4471A>C (ALK) NP_004295.2:p.Lys1491Gln
NM_001353765.1:c.1267A>C (ALK) NP_001340694.1:p.Lys423Gln
XM_024452778.1:c.1624A>C (ALK) XP_024308546.1:p.Lys542Gln
XM_024452779.1:c.1267A>C (ALK) XP_024308547.1:p.Lys423Gln
NM_004304.5:c.4471A>C (ALK) MANE Select NP_004295.2:p.Lys1491Gln
NM_001353765.2:c.1267A>C (ALK) NP_001340694.1:p.Lys423Gln