Canonical Allele Identifier: CA346469679

Gene: ALK

Linked Data

• ClinVar Variation Id: 1501607
• ClinVar RCV Id: RCV002042853 ; RCV003170532
• dbSNP Id: rs1669415878
• MyVariant Identifiers: chr2:g.29432694A>G (hg19) ; chr2:g.29209828A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29209828A>G , CM000664.2:g.29209828A>G	GRCh38
NC_000002.11:g.29432694A>G , CM000664.1:g.29432694A>G	GRCh37
NC_000002.10:g.29286198A>G	NCBI36
NG_009445.1:g.716739T>C , LRG_488:g.716739T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.3794T>C MANE Select	ENSP00000373700.3:p.Val1265Ala
ENST00000431873.6:c.1021T>C
ENST00000638605.1:n.671T>C
ENST00000642122.1:c.590T>C	ENSP00000493203.1:p.Val197Ala
ENST00000389048.7:c.3794T>C	ENSP00000373700.3:p.Val1265Ala
ENST00000431873.5:c.674T>C	ENSP00000414027.2:p.Val225Ala
ENST00000618119.4:c.2663T>C	ENSP00000482733.1:p.Val888Ala
NM_004304.4:c.3794T>C	NP_004295.2:p.Val1265Ala
NM_001353765.1:c.590T>C	NP_001340694.1:p.Val197Ala
XM_024452778.1:c.947T>C	XP_024308546.1:p.Val316Ala
XM_024452779.1:c.590T>C	XP_024308547.1:p.Val197Ala
NM_004304.5:c.3794T>C MANE Select	NP_004295.2:p.Val1265Ala
NM_001353765.2:c.590T>C	NP_001340694.1:p.Val197Ala