Canonical Allele Identifier: CA346473090

Gene: ALK

Linked Data

• ClinVar Variation Id: 849292
• ClinVar RCV Id: RCV001053220
• dbSNP Id: rs1669780974
• MyVariant Identifiers: chr2:g.29443648A>G (hg19) ; chr2:g.29220782A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220782A>G , CM000664.2:g.29220782A>G	GRCh38
NC_000002.11:g.29443648A>G , CM000664.1:g.29443648A>G	GRCh37
NC_000002.10:g.29297152A>G	NCBI36
NG_009445.1:g.705785T>C , LRG_488:g.705785T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3569T>C MANE Select	ENSP00000373700.3:p.Leu1190Pro
ENST00000431873.6:c.796T>C
ENST00000638605.1:n.446T>C
ENST00000642122.1:c.365T>C	ENSP00000493203.1:p.Leu122Pro
ENST00000389048.7:c.3569T>C	ENSP00000373700.3:p.Leu1190Pro
ENST00000431873.5:c.449T>C	ENSP00000414027.2:p.Leu150Pro
ENST00000618119.4:c.2438T>C	ENSP00000482733.1:p.Leu813Pro
NM_004304.4:c.3569T>C	NP_004295.2:p.Leu1190Pro
NM_001353765.1:c.365T>C	NP_001340694.1:p.Leu122Pro
XM_024452778.1:c.722T>C	XP_024308546.1:p.Leu241Pro
XM_024452779.1:c.365T>C	XP_024308547.1:p.Leu122Pro
NM_004304.5:c.3569T>C MANE Select	NP_004295.2:p.Leu1190Pro
NM_001353765.2:c.365T>C	NP_001340694.1:p.Leu122Pro