Canonical Allele Identifier: CA1594541

Gene: ALK

Linked Data

• ClinVar Variation Id: 470772
• ClinVar RCV Id: RCV000555720 ; RCV003318593 ; RCV004024155
• dbSNP Id: rs75158395
• ExAC: 2:29519815 C / T
• gnomAD v2: 2-29519815-C-T
• gnomAD v3: 2-29296949-C-T
• gnomAD v4: 2-29296949-C-T
• MyVariant Identifiers: chr2:g.29519815C>T (hg19) ; chr2:g.29296949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29296949C>T , CM000664.2:g.29296949C>T	GRCh38
NC_000002.11:g.29519815C>T , CM000664.1:g.29519815C>T	GRCh37
NC_000002.10:g.29373319C>T	NCBI36
NG_009445.1:g.629618G>A , LRG_488:g.629618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.1756G>A MANE Select	ENSP00000373700.3:p.Ala586Thr
ENST00000389048.7:c.1756G>A	ENSP00000373700.3:p.Ala586Thr
ENST00000498037.1:n.311G>A
ENST00000618119.4:c.625G>A	ENSP00000482733.1:p.Ala209Thr
NM_004304.4:c.1756G>A	NP_004295.2:p.Ala586Thr
XR_001738688.2:n.2686G>A
NM_004304.5:c.1756G>A MANE Select	NP_004295.2:p.Ala586Thr