Canonical Allele Identifier: CA156626

Gene: ALK

Linked Data

• ClinVar Variation Id: 133470
• ClinVar RCV Id: RCV000119974 ; RCV000466193 ; RCV002257414 ; RCV002508194
• dbSNP Id: rs72852032
• ExAC: 2:29446385 C / T
• gnomAD v2: 2-29446385-C-T
• gnomAD v3: 2-29223519-C-T
• gnomAD v4: 2-29223519-C-T
• COSMIC: COSM28494
• MyVariant Identifiers: chr2:g.29446385C>T (hg19) ; chr2:g.29223519C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29223519C>T , CM000664.2:g.29223519C>T	GRCh38
NC_000002.11:g.29446385C>T , CM000664.1:g.29446385C>T	GRCh37
NC_000002.10:g.29299889C>T	NCBI36
NG_009445.1:g.703048G>A , LRG_488:g.703048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3182G>A MANE Select	ENSP00000373700.3:p.Arg1061Gln
ENST00000431873.6:c.409G>A
ENST00000638605.1:n.59G>A
ENST00000642122.1:c.-23G>A	ENSP00000493203.1:n.-23G>A
ENST00000389048.7:c.3182G>A	ENSP00000373700.3:p.Arg1061Gln
ENST00000431873.5:c.62G>A	ENSP00000414027.2:p.Arg21Gln
ENST00000618119.4:c.2051G>A	ENSP00000482733.1:p.Arg684Gln
NM_004304.4:c.3182G>A	NP_004295.2:p.Arg1061Gln
NM_001353765.1:c.-23G>A	NP_001340694.1:n.-23G>A
XM_024452778.1:c.335G>A	XP_024308546.1:p.Arg112Gln
XM_024452779.1:c.-23G>A	XP_024308547.1:n.-23G>A
XR_001738688.2:n.4038G>A
NM_004304.5:c.3182G>A MANE Select	NP_004295.2:p.Arg1061Gln
NM_001353765.2:c.-23G>A	NP_001340694.1:n.-23G>A