Canonical Allele Identifier: CA346473013

Gene: ALK

Linked Data

• ClinVar Variation Id: 1906146
• ClinVar RCV Id: RCV002584043
• dbSNP Id: rs1553393864
• MyVariant Identifiers: chr2:g.29443607G>A (hg19) ; chr2:g.29220741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220741G>A , CM000664.2:g.29220741G>A	GRCh38
NC_000002.11:g.29443607G>A , CM000664.1:g.29443607G>A	GRCh37
NC_000002.10:g.29297111G>A	NCBI36
NG_009445.1:g.705826C>T , LRG_488:g.705826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3610C>T MANE Select	ENSP00000373700.3:p.Leu1204Phe
ENST00000431873.6:c.837C>T
ENST00000638605.1:n.487C>T
ENST00000642122.1:c.406C>T	ENSP00000493203.1:p.Leu136Phe
ENST00000389048.7:c.3610C>T	ENSP00000373700.3:p.Leu1204Phe
ENST00000431873.5:c.490C>T	ENSP00000414027.2:p.Leu164Phe
ENST00000618119.4:c.2479C>T	ENSP00000482733.1:p.Leu827Phe
NM_004304.4:c.3610C>T	NP_004295.2:p.Leu1204Phe
NM_001353765.1:c.406C>T	NP_001340694.1:p.Leu136Phe
XM_024452778.1:c.763C>T	XP_024308546.1:p.Leu255Phe
XM_024452779.1:c.406C>T	XP_024308547.1:p.Leu136Phe
NM_004304.5:c.3610C>T MANE Select	NP_004295.2:p.Leu1204Phe
NM_001353765.2:c.406C>T	NP_001340694.1:p.Leu136Phe