Canonical Allele Identifier: CA279586

Gene: ALK

Linked Data

• ClinVar Variation Id: 217851
• ClinVar RCV Id: RCV000201882 ; RCV000418576 ; RCV000426846 ; RCV000435780 ; RCV000444781
• dbSNP Id: rs863225281
• COSMIC: COSM28055
• MyVariant Identifiers: chr2:g.29443695G>T (hg19) ; chr2:g.29220829G>T (hg38)
• CIViC: CA279586
• PubMed: PMID:18923525 ; PMID:21030459 ; PMID:21575866 ; PMID:21838707 ; PMID:21948233 ; PMID:22072639 ; PMID:22277784 ; PMID:24327273

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220829G>T , CM000664.2:g.29220829G>T	GRCh38
NC_000002.11:g.29443695G>T , CM000664.1:g.29443695G>T	GRCh37
NC_000002.10:g.29297199G>T	NCBI36
NG_009445.1:g.705738C>A , LRG_488:g.705738C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3522C>A MANE Select	ENSP00000373700.3:p.Phe1174Leu
ENST00000431873.6:c.749C>A
ENST00000638605.1:n.399C>A
ENST00000642122.1:c.318C>A	ENSP00000493203.1:p.Phe106Leu
ENST00000389048.7:c.3522C>A	ENSP00000373700.3:p.Phe1174Leu
ENST00000431873.5:c.402C>A	ENSP00000414027.2:p.Phe134Leu
ENST00000618119.4:c.2391C>A	ENSP00000482733.1:p.Phe797Leu
NM_004304.4:c.3522C>A	NP_004295.2:p.Phe1174Leu
NM_001353765.1:c.318C>A	NP_001340694.1:p.Phe106Leu
XM_024452778.1:c.675C>A	XP_024308546.1:p.Phe225Leu
XM_024452779.1:c.318C>A	XP_024308547.1:p.Phe106Leu
NM_004304.5:c.3522C>A MANE Select	NP_004295.2:p.Phe1174Leu
NM_001353765.2:c.318C>A	NP_001340694.1:p.Phe106Leu