Canonical Allele Identifier: CA346473049

Gene: ALK

Linked Data

• dbSNP Id: rs751306825
• MyVariant Identifiers: chr2:g.29443625G>C (hg19) ; chr2:g.29220759G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220759G>C , CM000664.2:g.29220759G>C	GRCh38
NC_000002.11:g.29443625G>C , CM000664.1:g.29443625G>C	GRCh37
NC_000002.10:g.29297129G>C	NCBI36
NG_009445.1:g.705808C>G , LRG_488:g.705808C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3592C>G MANE Select	ENSP00000373700.3:p.Leu1198Val
ENST00000431873.6:c.819C>G
ENST00000638605.1:n.469C>G
ENST00000642122.1:c.388C>G	ENSP00000493203.1:p.Leu130Val
ENST00000389048.7:c.3592C>G	ENSP00000373700.3:p.Leu1198Val
ENST00000431873.5:c.472C>G	ENSP00000414027.2:p.Leu158Val
ENST00000618119.4:c.2461C>G	ENSP00000482733.1:p.Leu821Val
NM_004304.4:c.3592C>G	NP_004295.2:p.Leu1198Val
NM_001353765.1:c.388C>G	NP_001340694.1:p.Leu130Val
XM_024452778.1:c.745C>G	XP_024308546.1:p.Leu249Val
XM_024452779.1:c.388C>G	XP_024308547.1:p.Leu130Val
NM_004304.5:c.3592C>G MANE Select	NP_004295.2:p.Leu1198Val
NM_001353765.2:c.388C>G	NP_001340694.1:p.Leu130Val