Canonical Allele Identifier: CA277829

Gene: ALK

Linked Data

• ClinVar Variation Id: 217849
• ClinVar RCV Id: RCV000201883 ; RCV000421904
• dbSNP Id: rs281864719
• COSMIC: COSM28057
• MyVariant Identifiers: chr2:g.29443697A>G (hg19) ; chr2:g.29220831A>G (hg38)
• PubMed: PMID:2124297 ; PMID:18923523

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3520T>C MANE Select	ENSP00000373700.3:p.Phe1174Leu
ENST00000431873.6:c.747T>C
ENST00000638605.1:n.397T>C
ENST00000642122.1:c.316T>C	ENSP00000493203.1:p.Phe106Leu
ENST00000389048.7:c.3520T>C	ENSP00000373700.3:p.Phe1174Leu
ENST00000431873.5:c.400T>C	ENSP00000414027.2:p.Phe134Leu
ENST00000618119.4:c.2389T>C	ENSP00000482733.1:p.Phe797Leu
NM_004304.4:c.3520T>C	NP_004295.2:p.Phe1174Leu
NM_001353765.1:c.316T>C	NP_001340694.1:p.Phe106Leu
XM_024452778.1:c.673T>C	XP_024308546.1:p.Phe225Leu
XM_024452779.1:c.316T>C	XP_024308547.1:p.Phe106Leu
NM_004304.5:c.3520T>C MANE Select	NP_004295.2:p.Phe1174Leu
NM_001353765.2:c.316T>C	NP_001340694.1:p.Phe106Leu