Canonical Allele Identifier: CA341484

Gene: ALK

Linked Data

• ClinVar Variation Id: 18084
• ClinVar RCV Id: RCV000421391 ; RCV000438595 ; RCV000019710
• dbSNP Id: rs113994088
• COSMIC: COSM98475
• MyVariant Identifiers: chr2:g.29445450C>G (hg19) ; chr2:g.29222584C>G (hg38)
• PubMed: PMID:18724359 ; PMID:20301782 ; PMID:22072639

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222584C>G , CM000664.2:g.29222584C>G	GRCh38
NC_000002.11:g.29445450C>G , CM000664.1:g.29445450C>G	GRCh37
NC_000002.10:g.29298954C>G	NCBI36
NG_009445.1:g.703983G>C , LRG_488:g.703983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3383G>C MANE Select	ENSP00000373700.3:p.Gly1128Ala
ENST00000431873.6:c.610G>C
ENST00000638605.1:n.260G>C
ENST00000642122.1:c.179G>C	ENSP00000493203.1:p.Gly60Ala
ENST00000389048.7:c.3383G>C	ENSP00000373700.3:p.Gly1128Ala
ENST00000431873.5:c.263G>C	ENSP00000414027.2:p.Gly88Ala
ENST00000453137.1:c.77G>C	ENSP00000387488.1:p.Gly26Ala
ENST00000618119.4:c.2252G>C	ENSP00000482733.1:p.Gly751Ala
NM_004304.4:c.3383G>C	NP_004295.2:p.Gly1128Ala
NM_001353765.1:c.179G>C	NP_001340694.1:p.Gly60Ala
XM_024452778.1:c.536G>C	XP_024308546.1:p.Gly179Ala
XM_024452779.1:c.179G>C	XP_024308547.1:p.Gly60Ala
NM_004304.5:c.3383G>C MANE Select	NP_004295.2:p.Gly1128Ala
NM_001353765.2:c.179G>C	NP_001340694.1:p.Gly60Ala