Canonical Allele Identifier: CA346473150
Community Standard Title: NM_004304.5(ALK):c.3538G>C (p.Val1180Leu)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29220813C>G , CM000664.2:g.29220813C>G GRCh38
NC_000002.11:g.29443679C>G , CM000664.1:g.29443679C>G GRCh37
NC_000002.10:g.29297183C>G NCBI36
NG_009445.1:g.705754G>C , LRG_488:g.705754G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3538G>C MANE Select NP_004295.2:p.Val1180Leu
ENST00000389048.8:c.3538G>C MANE Select ENSP00000373700.3:p.Val1180Leu
NM_001353765.1:c.334G>C NP_001340694.1:p.Val112Leu
NM_001353765.2:c.334G>C NP_001340694.1:p.Val112Leu
NM_004304.4:c.3538G>C NP_004295.2:p.Val1180Leu
ENST00000389048.7:c.3538G>C ENSP00000373700.3:p.Val1180Leu
ENST00000431873.5:c.418G>C ENSP00000414027.2:p.Val140Leu
ENST00000431873.6:c.765G>C
ENST00000618119.4:c.2407G>C ENSP00000482733.1:p.Val803Leu
ENST00000638605.1:n.415G>C
ENST00000642122.1:c.334G>C ENSP00000493203.1:p.Val112Leu
XM_024452778.1:c.691G>C XP_024308546.1:p.Val231Leu
XM_024452779.1:c.334G>C XP_024308547.1:p.Val112Leu