Canonical Allele Identifier: CA1593804

Gene: ALK

Linked Data

• ClinVar Variation Id: 404363
• ClinVar RCV Id: RCV000474175 ; RCV000569692 ; RCV002305487
• dbSNP Id: rs200110351
• ExAC: 2:29436901 C / T
• gnomAD v2: 2-29436901-C-T
• gnomAD v3: 2-29214035-C-T
• gnomAD v4: 2-29214035-C-T
• COSMIC: COSM5967491
• MyVariant Identifiers: chr2:g.29436901C>T (hg19) ; chr2:g.29214035C>T (hg38)
• PubMed: PMID:25517749

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29214035C>T , CM000664.2:g.29214035C>T	GRCh38
NC_000002.11:g.29436901C>T , CM000664.1:g.29436901C>T	GRCh37
NC_000002.10:g.29290405C>T	NCBI36
NG_009445.1:g.712532G>A , LRG_488:g.712532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3692G>A MANE Select	ENSP00000373700.3:p.Arg1231Gln
ENST00000431873.6:c.919G>A
ENST00000638605.1:n.569G>A
ENST00000642122.1:c.488G>A	ENSP00000493203.1:p.Arg163Gln
ENST00000389048.7:c.3692G>A	ENSP00000373700.3:p.Arg1231Gln
ENST00000431873.5:c.572G>A	ENSP00000414027.2:p.Arg191Gln
ENST00000618119.4:c.2561G>A	ENSP00000482733.1:p.Arg854Gln
NM_004304.4:c.3692G>A	NP_004295.2:p.Arg1231Gln
NM_001353765.1:c.488G>A	NP_001340694.1:p.Arg163Gln
XM_024452778.1:c.845G>A	XP_024308546.1:p.Arg282Gln
XM_024452779.1:c.488G>A	XP_024308547.1:p.Arg163Gln
NM_004304.5:c.3692G>A MANE Select	NP_004295.2:p.Arg1231Gln
NM_001353765.2:c.488G>A	NP_001340694.1:p.Arg163Gln