Canonical Allele Identifier: CA346473045

Gene: ALK

Linked Data

• ClinVar Variation Id: 470837
• ClinVar RCV Id: RCV000531281 ; RCV001020679
• dbSNP Id: rs1400239417
• gnomAD v4: 2-29220756-T-G
• MyVariant Identifiers: chr2:g.29443622T>G (hg19) ; chr2:g.29220756T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220756T>G , CM000664.2:g.29220756T>G	GRCh38
NC_000002.11:g.29443622T>G , CM000664.1:g.29443622T>G	GRCh37
NC_000002.10:g.29297126T>G	NCBI36
NG_009445.1:g.705811A>C , LRG_488:g.705811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3595A>C MANE Select	ENSP00000373700.3:p.Met1199Leu
ENST00000431873.6:c.822A>C
ENST00000638605.1:n.472A>C
ENST00000642122.1:c.391A>C	ENSP00000493203.1:p.Met131Leu
ENST00000389048.7:c.3595A>C	ENSP00000373700.3:p.Met1199Leu
ENST00000431873.5:c.475A>C	ENSP00000414027.2:p.Met159Leu
ENST00000618119.4:c.2464A>C	ENSP00000482733.1:p.Met822Leu
NM_004304.4:c.3595A>C	NP_004295.2:p.Met1199Leu
NM_001353765.1:c.391A>C	NP_001340694.1:p.Met131Leu
XM_024452778.1:c.748A>C	XP_024308546.1:p.Met250Leu
XM_024452779.1:c.391A>C	XP_024308547.1:p.Met131Leu
NM_004304.5:c.3595A>C MANE Select	NP_004295.2:p.Met1199Leu
NM_001353765.2:c.391A>C	NP_001340694.1:p.Met131Leu