Canonical Allele Identifier: CA346473012

Gene: ALK

Linked Data

• dbSNP Id: rs1573120149
• MyVariant Identifiers: chr2:g.29443606A>T (hg19) ; chr2:g.29220740A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220740A>T , CM000664.2:g.29220740A>T	GRCh38
NC_000002.11:g.29443606A>T , CM000664.1:g.29443606A>T	GRCh37
NC_000002.10:g.29297110A>T	NCBI36
NG_009445.1:g.705827T>A , LRG_488:g.705827T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3611T>A MANE Select	ENSP00000373700.3:p.Leu1204His
ENST00000431873.6:c.838T>A
ENST00000638605.1:n.488T>A
ENST00000642122.1:c.407T>A	ENSP00000493203.1:p.Leu136His
ENST00000389048.7:c.3611T>A	ENSP00000373700.3:p.Leu1204His
ENST00000431873.5:c.491T>A	ENSP00000414027.2:p.Leu164His
ENST00000618119.4:c.2480T>A	ENSP00000482733.1:p.Leu827His
NM_004304.4:c.3611T>A	NP_004295.2:p.Leu1204His
NM_001353765.1:c.407T>A	NP_001340694.1:p.Leu136His
XM_024452778.1:c.764T>A	XP_024308546.1:p.Leu255His
XM_024452779.1:c.407T>A	XP_024308547.1:p.Leu136His
NM_004304.5:c.3611T>A MANE Select	NP_004295.2:p.Leu1204His
NM_001353765.2:c.407T>A	NP_001340694.1:p.Leu136His