Canonical Allele Identifier: CA1594003
Community Standard Title: NM_004304.5(ALK):c.3348C>A (p.Ile1116=)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29223353G>T , CM000664.2:g.29223353G>T GRCh38
NC_000002.11:g.29446219G>T , CM000664.1:g.29446219G>T GRCh37
NC_000002.10:g.29299723G>T NCBI36
NG_009445.1:g.703214C>A , LRG_488:g.703214C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3348C>A MANE Select NP_004295.2:p.Ile1116=
ENST00000389048.8:c.3348C>A MANE Select ENSP00000373700.3:p.Ile1116=
NM_001353765.1:c.144C>A NP_001340694.1:p.Ile48=
NM_001353765.2:c.144C>A NP_001340694.1:p.Ile48=
NM_004304.4:c.3348C>A NP_004295.2:p.Ile1116=
ENST00000389048.7:c.3348C>A ENSP00000373700.3:p.Ile1116=
ENST00000431873.5:c.228C>A ENSP00000414027.2:p.Ile76=
ENST00000431873.6:c.575C>A
ENST00000453137.1:c.42C>A ENSP00000387488.1:p.Ile14=
ENST00000618119.4:c.2217C>A ENSP00000482733.1:p.Ile739=
ENST00000638605.1:n.225C>A
ENST00000642122.1:c.144C>A ENSP00000493203.1:p.Ile48=
XM_024452778.1:c.501C>A XP_024308546.1:p.Ile167=
XM_024452779.1:c.144C>A XP_024308547.1:p.Ile48=