Canonical Allele Identifier: CA16610895

Gene: ALK

Linked Data

• ClinVar Variation Id: 404382
• ClinVar RCV Id: RCV000467460 ; RCV001770299 ; RCV002451071
• dbSNP Id: rs1060500229
• MyVariant Identifiers: chr2:g.29443687T>G (hg19) ; chr2:g.29220821T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220821T>G , CM000664.2:g.29220821T>G	GRCh38
NC_000002.11:g.29443687T>G , CM000664.1:g.29443687T>G	GRCh37
NC_000002.10:g.29297191T>G	NCBI36
NG_009445.1:g.705746A>C , LRG_488:g.705746A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3530A>C MANE Select	ENSP00000373700.3:p.Gln1177Pro
ENST00000431873.6:c.757A>C
ENST00000638605.1:n.407A>C
ENST00000642122.1:c.326A>C	ENSP00000493203.1:p.Gln109Pro
ENST00000389048.7:c.3530A>C	ENSP00000373700.3:p.Gln1177Pro
ENST00000431873.5:c.410A>C	ENSP00000414027.2:p.Gln137Pro
ENST00000618119.4:c.2399A>C	ENSP00000482733.1:p.Gln800Pro
NM_004304.4:c.3530A>C	NP_004295.2:p.Gln1177Pro
NM_001353765.1:c.326A>C	NP_001340694.1:p.Gln109Pro
XM_024452778.1:c.683A>C	XP_024308546.1:p.Gln228Pro
XM_024452779.1:c.326A>C	XP_024308547.1:p.Gln109Pro
NM_004304.5:c.3530A>C MANE Select	NP_004295.2:p.Gln1177Pro
NM_001353765.2:c.326A>C	NP_001340694.1:p.Gln109Pro