Canonical Allele Identifier: CA1593974

Gene: ALK

Linked Data

• ClinVar Variation Id: 404380
• ClinVar RCV Id: RCV000467869 ; RCV000571840 ; RCV002473007
• dbSNP Id: rs55760835
• ExAC: 2:29445471 C / T
• gnomAD v2: 2-29445471-C-T
• gnomAD v3: 2-29222605-C-T
• gnomAD v4: 2-29222605-C-T
• MyVariant Identifiers: chr2:g.29445471C>T (hg19) ; chr2:g.29222605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222605C>T , CM000664.2:g.29222605C>T	GRCh38
NC_000002.11:g.29445471C>T , CM000664.1:g.29445471C>T	GRCh37
NC_000002.10:g.29298975C>T	NCBI36
NG_009445.1:g.703962G>A , LRG_488:g.703962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3362G>A MANE Select	ENSP00000373700.3:p.Gly1121Asp
ENST00000431873.6:c.589G>A
ENST00000638605.1:n.239G>A
ENST00000642122.1:c.158G>A	ENSP00000493203.1:p.Gly53Asp
ENST00000389048.7:c.3362G>A	ENSP00000373700.3:p.Gly1121Asp
ENST00000431873.5:c.242G>A	ENSP00000414027.2:p.Gly81Asp
ENST00000453137.1:c.56G>A	ENSP00000387488.1:p.Gly19Asp
ENST00000618119.4:c.2231G>A	ENSP00000482733.1:p.Gly744Asp
NM_004304.4:c.3362G>A	NP_004295.2:p.Gly1121Asp
NM_001353765.1:c.158G>A	NP_001340694.1:p.Gly53Asp
XM_024452778.1:c.515G>A	XP_024308546.1:p.Gly172Asp
XM_024452779.1:c.158G>A	XP_024308547.1:p.Gly53Asp
NM_004304.5:c.3362G>A MANE Select	NP_004295.2:p.Gly1121Asp
NM_001353765.2:c.158G>A	NP_001340694.1:p.Gly53Asp