Canonical Allele Identifier: CA1593812
Community Standard Title: NM_004304.5(ALK):c.3656C>T (p.Ser1219Phe)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29214071G>A , CM000664.2:g.29214071G>A GRCh38
NC_000002.11:g.29436937G>A , CM000664.1:g.29436937G>A GRCh37
NC_000002.10:g.29290441G>A NCBI36
NG_009445.1:g.712496C>T , LRG_488:g.712496C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3656C>T MANE Select NP_004295.2:p.Ser1219Phe
ENST00000389048.8:c.3656C>T MANE Select ENSP00000373700.3:p.Ser1219Phe
NM_001353765.1:c.452C>T NP_001340694.1:p.Ser151Phe
NM_001353765.2:c.452C>T NP_001340694.1:p.Ser151Phe
NM_004304.4:c.3656C>T NP_004295.2:p.Ser1219Phe
ENST00000389048.7:c.3656C>T ENSP00000373700.3:p.Ser1219Phe
ENST00000431873.5:c.536C>T ENSP00000414027.2:p.Ser179Phe
ENST00000431873.6:c.883C>T
ENST00000618119.4:c.2525C>T ENSP00000482733.1:p.Ser842Phe
ENST00000638605.1:n.533C>T
ENST00000642122.1:c.452C>T ENSP00000493203.1:p.Ser151Phe
XM_024452778.1:c.809C>T XP_024308546.1:p.Ser270Phe
XM_024452779.1:c.452C>T XP_024308547.1:p.Ser151Phe