Canonical Allele Identifier: CA345001

Gene: ALK

Linked Data

• ClinVar Variation Id: 65670
• ClinVar RCV Id: RCV000055894 ; RCV000434983
• dbSNP Id: rs281864719
• COSMIC: COSM28054
• MyVariant Identifiers: chr2:g.29443697A>C (hg19) ; chr2:g.29220831A>C (hg38)
• CIViC: CA345001
• PubMed: PMID:18923523 ; PMID:20301782 ; PMID:21838707 ; PMID:21972109 ; PMID:22072639 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220831A>C , CM000664.2:g.29220831A>C	GRCh38
NC_000002.11:g.29443697A>C , CM000664.1:g.29443697A>C	GRCh37
NC_000002.10:g.29297201A>C	NCBI36
NG_009445.1:g.705736T>G , LRG_488:g.705736T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3520T>G MANE Select	ENSP00000373700.3:p.Phe1174Val
ENST00000431873.6:c.747T>G
ENST00000638605.1:n.397T>G
ENST00000642122.1:c.316T>G	ENSP00000493203.1:p.Phe106Val
ENST00000389048.7:c.3520T>G	ENSP00000373700.3:p.Phe1174Val
ENST00000431873.5:c.400T>G	ENSP00000414027.2:p.Phe134Val
ENST00000618119.4:c.2389T>G	ENSP00000482733.1:p.Phe797Val
NM_004304.4:c.3520T>G	NP_004295.2:p.Phe1174Val
NM_001353765.1:c.316T>G	NP_001340694.1:p.Phe106Val
XM_024452778.1:c.673T>G	XP_024308546.1:p.Phe225Val
XM_024452779.1:c.316T>G	XP_024308547.1:p.Phe106Val
NM_004304.5:c.3520T>G MANE Select	NP_004295.2:p.Phe1174Val
NM_001353765.2:c.316T>G	NP_001340694.1:p.Phe106Val