Canonical Allele Identifier: CA16602594

Gene: ALK

Linked Data

• ClinVar Variation Id: 376136
• ClinVar RCV Id: RCV000420784 ; RCV000437564
• dbSNP Id: rs1057519785
• COSMIC: COSM97185
• MyVariant Identifiers: chr2:g.29445270A>C (hg19) ; chr2:g.29222404A>C (hg38)
• CIViC: CA16602594
• PubMed: PMID:21791641 ; PMID:22277784

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222404A>C , CM000664.2:g.29222404A>C	GRCh38
NC_000002.11:g.29445270A>C , CM000664.1:g.29445270A>C	GRCh37
NC_000002.10:g.29298774A>C	NCBI36
NG_009445.1:g.704163T>G , LRG_488:g.704163T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3455T>G MANE Select	ENSP00000373700.3:p.Leu1152Arg
ENST00000431873.6:c.682T>G
ENST00000638605.1:n.332T>G
ENST00000642122.1:c.251T>G	ENSP00000493203.1:p.Leu84Arg
ENST00000389048.7:c.3455T>G	ENSP00000373700.3:p.Leu1152Arg
ENST00000431873.5:c.335T>G	ENSP00000414027.2:p.Leu112Arg
ENST00000453137.1:c.149T>G	ENSP00000387488.1:p.Leu50Arg
ENST00000618119.4:c.2324T>G	ENSP00000482733.1:p.Leu775Arg
NM_004304.4:c.3455T>G	NP_004295.2:p.Leu1152Arg
NM_001353765.1:c.251T>G	NP_001340694.1:p.Leu84Arg
XM_024452778.1:c.608T>G	XP_024308546.1:p.Leu203Arg
XM_024452779.1:c.251T>G	XP_024308547.1:p.Leu84Arg
NM_004304.5:c.3455T>G MANE Select	NP_004295.2:p.Leu1152Arg
NM_001353765.2:c.251T>G	NP_001340694.1:p.Leu84Arg