Canonical Allele Identifier: CA16602593

Gene: ALK

Linked Data

• ClinVar Variation Id: 376135
• ClinVar RCV Id: RCV000424376 ; RCV000435601 ; RCV002282133
• dbSNP Id: rs1057519784
• COSMIC: COSM99137
• MyVariant Identifiers: chr2:g.29443631G>T (hg19) ; chr2:g.29220765G>T (hg38)
• CIViC: CA16602593
• PubMed: PMID:20979473 ; PMID:21575866 ; PMID:22277784 ; PMID:24327273 ; PMID:24670165

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220765G>T , CM000664.2:g.29220765G>T	GRCh38
NC_000002.11:g.29443631G>T , CM000664.1:g.29443631G>T	GRCh37
NC_000002.10:g.29297135G>T	NCBI36
NG_009445.1:g.705802C>A , LRG_488:g.705802C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3586C>A MANE Select	ENSP00000373700.3:p.Leu1196Met
ENST00000431873.6:c.813C>A
ENST00000638605.1:n.463C>A
ENST00000642122.1:c.382C>A	ENSP00000493203.1:p.Leu128Met
ENST00000389048.7:c.3586C>A	ENSP00000373700.3:p.Leu1196Met
ENST00000431873.5:c.466C>A	ENSP00000414027.2:p.Leu156Met
ENST00000618119.4:c.2455C>A	ENSP00000482733.1:p.Leu819Met
NM_004304.4:c.3586C>A	NP_004295.2:p.Leu1196Met
NM_001353765.1:c.382C>A	NP_001340694.1:p.Leu128Met
XM_024452778.1:c.739C>A	XP_024308546.1:p.Leu247Met
XM_024452779.1:c.382C>A	XP_024308547.1:p.Leu128Met
NM_004304.5:c.3586C>A MANE Select	NP_004295.2:p.Leu1196Met
NM_001353765.2:c.382C>A	NP_001340694.1:p.Leu128Met