Canonical Allele Identifier: CA346473059

Gene: ALK

Linked Data

• ClinVar Variation Id: 998890
• ClinVar RCV Id: RCV001294810 ; RCV004035620
• dbSNP Id: rs1669780202
• MyVariant Identifiers: chr2:g.29443630A>G (hg19) ; chr2:g.29220764A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220764A>G , CM000664.2:g.29220764A>G	GRCh38
NC_000002.11:g.29443630A>G , CM000664.1:g.29443630A>G	GRCh37
NC_000002.10:g.29297134A>G	NCBI36
NG_009445.1:g.705803T>C , LRG_488:g.705803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3587T>C MANE Select	ENSP00000373700.3:p.Leu1196Pro
ENST00000431873.6:c.814T>C
ENST00000638605.1:n.464T>C
ENST00000642122.1:c.383T>C	ENSP00000493203.1:p.Leu128Pro
ENST00000389048.7:c.3587T>C	ENSP00000373700.3:p.Leu1196Pro
ENST00000431873.5:c.467T>C	ENSP00000414027.2:p.Leu156Pro
ENST00000618119.4:c.2456T>C	ENSP00000482733.1:p.Leu819Pro
NM_004304.4:c.3587T>C	NP_004295.2:p.Leu1196Pro
NM_001353765.1:c.383T>C	NP_001340694.1:p.Leu128Pro
XM_024452778.1:c.740T>C	XP_024308546.1:p.Leu247Pro
XM_024452779.1:c.383T>C	XP_024308547.1:p.Leu128Pro
NM_004304.5:c.3587T>C MANE Select	NP_004295.2:p.Leu1196Pro
NM_001353765.2:c.383T>C	NP_001340694.1:p.Leu128Pro