Canonical Allele Identifier: CA1593923

Gene: ALK

Linked Data

• dbSNP Id: rs761792619
• ExAC: 2:29445240 A / G
• gnomAD v2: 2-29445240-A-G
• gnomAD v4: 2-29222374-A-G
• MyVariant Identifiers: chr2:g.29445240A>G (hg19) ; chr2:g.29222374A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222374A>G , CM000664.2:g.29222374A>G	GRCh38
NC_000002.11:g.29445240A>G , CM000664.1:g.29445240A>G	GRCh37
NC_000002.10:g.29298744A>G	NCBI36
NG_009445.1:g.704193T>C , LRG_488:g.704193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3485T>C MANE Select	ENSP00000373700.3:p.Leu1162Pro
ENST00000431873.6:c.712T>C
ENST00000638605.1:n.362T>C
ENST00000642122.1:c.281T>C	ENSP00000493203.1:p.Leu94Pro
ENST00000389048.7:c.3485T>C	ENSP00000373700.3:p.Leu1162Pro
ENST00000431873.5:c.365T>C	ENSP00000414027.2:p.Leu122Pro
ENST00000453137.1:c.179T>C	ENSP00000387488.1:p.Leu60Pro
ENST00000618119.4:c.2354T>C	ENSP00000482733.1:p.Leu785Pro
NM_004304.4:c.3485T>C	NP_004295.2:p.Leu1162Pro
NM_001353765.1:c.281T>C	NP_001340694.1:p.Leu94Pro
XM_024452778.1:c.638T>C	XP_024308546.1:p.Leu213Pro
XM_024452779.1:c.281T>C	XP_024308547.1:p.Leu94Pro
NM_004304.5:c.3485T>C MANE Select	NP_004295.2:p.Leu1162Pro
NM_001353765.2:c.281T>C	NP_001340694.1:p.Leu94Pro