Canonical Allele Identifier: CA346473037

Gene: ALK

Linked Data

• ClinVar Variation Id: 1390312
• ClinVar RCV Id: RCV001917571
• dbSNP Id: rs1669779479
• MyVariant Identifiers: chr2:g.29443620C>A (hg19) ; chr2:g.29220754C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220754C>A , CM000664.2:g.29220754C>A	GRCh38
NC_000002.11:g.29443620C>A , CM000664.1:g.29443620C>A	GRCh37
NC_000002.10:g.29297124C>A	NCBI36
NG_009445.1:g.705813G>T , LRG_488:g.705813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3597G>T MANE Select	ENSP00000373700.3:p.Met1199Ile
ENST00000431873.6:c.824G>T
ENST00000638605.1:n.474G>T
ENST00000642122.1:c.393G>T	ENSP00000493203.1:p.Met131Ile
ENST00000389048.7:c.3597G>T	ENSP00000373700.3:p.Met1199Ile
ENST00000431873.5:c.477G>T	ENSP00000414027.2:p.Met159Ile
ENST00000618119.4:c.2466G>T	ENSP00000482733.1:p.Met822Ile
NM_004304.4:c.3597G>T	NP_004295.2:p.Met1199Ile
NM_001353765.1:c.393G>T	NP_001340694.1:p.Met131Ile
XM_024452778.1:c.750G>T	XP_024308546.1:p.Met250Ile
XM_024452779.1:c.393G>T	XP_024308547.1:p.Met131Ile
NM_004304.5:c.3597G>T MANE Select	NP_004295.2:p.Met1199Ile
NM_001353765.2:c.393G>T	NP_001340694.1:p.Met131Ile