Canonical Allele Identifier: CA1594004

Gene: ALK

Linked Data

• ClinVar Variation Id: 485075
• ClinVar RCV Id: RCV000566636 ; RCV000647454 ; RCV001354522
• dbSNP Id: rs199987354
• ExAC: 2:29446229 C / T
• gnomAD v2: 2-29446229-C-T
• gnomAD v3: 2-29223363-C-T
• gnomAD v4: 2-29223363-C-T
• MyVariant Identifiers: chr2:g.29446229C>T (hg19) ; chr2:g.29223363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29223363C>T , CM000664.2:g.29223363C>T	GRCh38
NC_000002.11:g.29446229C>T , CM000664.1:g.29446229C>T	GRCh37
NC_000002.10:g.29299733C>T	NCBI36
NG_009445.1:g.703204G>A , LRG_488:g.703204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3338G>A MANE Select	ENSP00000373700.3:p.Arg1113Gln
ENST00000431873.6:c.565G>A
ENST00000638605.1:n.215G>A
ENST00000642122.1:c.134G>A	ENSP00000493203.1:p.Arg45Gln
ENST00000389048.7:c.3338G>A	ENSP00000373700.3:p.Arg1113Gln
ENST00000431873.5:c.218G>A	ENSP00000414027.2:p.Arg73Gln
ENST00000453137.1:c.32G>A	ENSP00000387488.1:p.Arg11Gln
ENST00000618119.4:c.2207G>A	ENSP00000482733.1:p.Arg736Gln
NM_004304.4:c.3338G>A	NP_004295.2:p.Arg1113Gln
NM_001353765.1:c.134G>A	NP_001340694.1:p.Arg45Gln
XM_024452778.1:c.491G>A	XP_024308546.1:p.Arg164Gln
XM_024452779.1:c.134G>A	XP_024308547.1:p.Arg45Gln
NM_004304.5:c.3338G>A MANE Select	NP_004295.2:p.Arg1113Gln
NM_001353765.2:c.134G>A	NP_001340694.1:p.Arg45Gln