Canonical Allele Identifier: CA277834

Gene: ALK

Linked Data

• ClinVar Variation Id: 217850
• ClinVar RCV Id: RCV000201918 ; RCV000417766
• dbSNP Id: rs281864719
• COSMIC: COSM28491
• MyVariant Identifiers: chr2:g.29443697A>T (hg19) ; chr2:g.29220831A>T (hg38)
• PubMed: PMID:18990089 ; PMID:21838707 ; PMID:22072639

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3520T>A MANE Select	ENSP00000373700.3:p.Phe1174Ile
ENST00000431873.6:c.747T>A
ENST00000638605.1:n.397T>A
ENST00000642122.1:c.316T>A	ENSP00000493203.1:p.Phe106Ile
ENST00000389048.7:c.3520T>A	ENSP00000373700.3:p.Phe1174Ile
ENST00000431873.5:c.400T>A	ENSP00000414027.2:p.Phe134Ile
ENST00000618119.4:c.2389T>A	ENSP00000482733.1:p.Phe797Ile
NM_004304.4:c.3520T>A	NP_004295.2:p.Phe1174Ile
NM_001353765.1:c.316T>A	NP_001340694.1:p.Phe106Ile
XM_024452778.1:c.673T>A	XP_024308546.1:p.Phe225Ile
XM_024452779.1:c.316T>A	XP_024308547.1:p.Phe106Ile
NM_004304.5:c.3520T>A MANE Select	NP_004295.2:p.Phe1174Ile
NM_001353765.2:c.316T>A	NP_001340694.1:p.Phe106Ile