Canonical Allele Identifier: CA346473084

Gene: ALK

Linked Data

• dbSNP Id: rs1060500210
• COSMIC: COSM5991567
• MyVariant Identifiers: chr2:g.29443645G>A (hg19) ; chr2:g.29220779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220779G>A , CM000664.2:g.29220779G>A	GRCh38
NC_000002.11:g.29443645G>A , CM000664.1:g.29443645G>A	GRCh37
NC_000002.10:g.29297149G>A	NCBI36
NG_009445.1:g.705788C>T , LRG_488:g.705788C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.3572C>T MANE Select	ENSP00000373700.3:p.Pro1191Leu
ENST00000431873.6:c.799C>T
ENST00000638605.1:n.449C>T
ENST00000642122.1:c.368C>T	ENSP00000493203.1:p.Pro123Leu
ENST00000389048.7:c.3572C>T	ENSP00000373700.3:p.Pro1191Leu
ENST00000431873.5:c.452C>T	ENSP00000414027.2:p.Pro151Leu
ENST00000618119.4:c.2441C>T	ENSP00000482733.1:p.Pro814Leu
NM_004304.4:c.3572C>T	NP_004295.2:p.Pro1191Leu
NM_001353765.1:c.368C>T	NP_001340694.1:p.Pro123Leu
XM_024452778.1:c.725C>T	XP_024308546.1:p.Pro242Leu
XM_024452779.1:c.368C>T	XP_024308547.1:p.Pro123Leu
NM_004304.5:c.3572C>T MANE Select	NP_004295.2:p.Pro1191Leu
NM_001353765.2:c.368C>T	NP_001340694.1:p.Pro123Leu