Canonical Allele Identifier: CA16602591

Gene: ALK

Linked Data

• ClinVar Variation Id: 376133
• ClinVar RCV Id: RCV000422435 ; RCV000444462
• dbSNP Id: rs1057519782
• COSMIC: COSM144251
• MyVariant Identifiers: chr2:g.29443600G>T (hg19) ; chr2:g.29220734G>T (hg38)
• CIViC: CA16602591
• PubMed: PMID:22277784 ; PMID:24670165

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220734G>T , CM000664.2:g.29220734G>T	GRCh38
NC_000002.11:g.29443600G>T , CM000664.1:g.29443600G>T	GRCh37
NC_000002.10:g.29297104G>T	NCBI36
NG_009445.1:g.705833C>A , LRG_488:g.705833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3617C>A MANE Select	ENSP00000373700.3:p.Ser1206Tyr
ENST00000431873.6:c.844C>A
ENST00000638605.1:n.494C>A
ENST00000642122.1:c.413C>A	ENSP00000493203.1:p.Ser138Tyr
ENST00000389048.7:c.3617C>A	ENSP00000373700.3:p.Ser1206Tyr
ENST00000431873.5:c.497C>A	ENSP00000414027.2:p.Ser166Tyr
ENST00000618119.4:c.2486C>A	ENSP00000482733.1:p.Ser829Tyr
NM_004304.4:c.3617C>A	NP_004295.2:p.Ser1206Tyr
NM_001353765.1:c.413C>A	NP_001340694.1:p.Ser138Tyr
XM_024452778.1:c.770C>A	XP_024308546.1:p.Ser257Tyr
XM_024452779.1:c.413C>A	XP_024308547.1:p.Ser138Tyr
NM_004304.5:c.3617C>A MANE Select	NP_004295.2:p.Ser1206Tyr
NM_001353765.2:c.413C>A	NP_001340694.1:p.Ser138Tyr