Canonical Allele Identifier: CA346469681

Gene: ALK

Linked Data

• dbSNP Id: rs1669415878
• gnomAD v4: 2-29209828-A-T
• MyVariant Identifiers: chr2:g.29432694A>T (hg19) ; chr2:g.29209828A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3794T>A MANE Select	ENSP00000373700.3:p.Val1265Glu
ENST00000431873.6:c.1021T>A
ENST00000638605.1:n.671T>A
ENST00000642122.1:c.590T>A	ENSP00000493203.1:p.Val197Glu
ENST00000389048.7:c.3794T>A	ENSP00000373700.3:p.Val1265Glu
ENST00000431873.5:c.674T>A	ENSP00000414027.2:p.Val225Glu
ENST00000618119.4:c.2663T>A	ENSP00000482733.1:p.Val888Glu
NM_004304.4:c.3794T>A	NP_004295.2:p.Val1265Glu
NM_001353765.1:c.590T>A	NP_001340694.1:p.Val197Glu
XM_024452778.1:c.947T>A	XP_024308546.1:p.Val316Glu
XM_024452779.1:c.590T>A	XP_024308547.1:p.Val197Glu
NM_004304.5:c.3794T>A MANE Select	NP_004295.2:p.Val1265Glu
NM_001353765.2:c.590T>A	NP_001340694.1:p.Val197Glu