Canonical Allele Identifier: CA346462880

Gene: ALK

Linked Data

• ClinVar Variation Id: 545115
• ClinVar RCV Id: RCV000656371
• dbSNP Id: rs1057519698
• COSMIC: COSM4381100
• MyVariant Identifiers: chr2:g.29445213A>G (hg19) ; chr2:g.29222347A>G (hg38)
• CIViC: CA346462880

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222347A>G , CM000664.2:g.29222347A>G	GRCh38
NC_000002.11:g.29445213A>G , CM000664.1:g.29445213A>G	GRCh37
NC_000002.10:g.29298717A>G	NCBI36
NG_009445.1:g.704220T>C , LRG_488:g.704220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3512T>C MANE Select	ENSP00000373700.3:p.Ile1171Thr
ENST00000431873.6:c.739T>C
ENST00000638605.1:n.389T>C
ENST00000642122.1:c.308T>C	ENSP00000493203.1:p.Ile103Thr
ENST00000389048.7:c.3512T>C	ENSP00000373700.3:p.Ile1171Thr
ENST00000431873.5:c.392T>C	ENSP00000414027.2:p.Ile131Thr
ENST00000453137.1:c.206T>C	ENSP00000387488.1:p.Ile69Thr
ENST00000618119.4:c.2381T>C	ENSP00000482733.1:p.Ile794Thr
NM_004304.4:c.3512T>C	NP_004295.2:p.Ile1171Thr
NM_001353765.1:c.308T>C	NP_001340694.1:p.Ile103Thr
XM_024452778.1:c.665T>C	XP_024308546.1:p.Ile222Thr
XM_024452779.1:c.308T>C	XP_024308547.1:p.Ile103Thr
NM_004304.5:c.3512T>C MANE Select	NP_004295.2:p.Ile1171Thr
NM_001353765.2:c.308T>C	NP_001340694.1:p.Ile103Thr