Canonical Allele Identifier: CA425435000
Community Standard Title: NM_004304.5(ALK):c.3358C>A (p.Arg1120=)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29223343G>T , CM000664.2:g.29223343G>T GRCh38
NC_000002.11:g.29446209G>T , CM000664.1:g.29446209G>T GRCh37
NC_000002.10:g.29299713G>T NCBI36
NG_009445.1:g.703224C>A , LRG_488:g.703224C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3358C>A MANE Select NP_004295.2:p.Arg1120=
ENST00000389048.8:c.3358C>A MANE Select ENSP00000373700.3:p.Arg1120=
NM_001353765.1:c.154C>A NP_001340694.1:p.Arg52=
NM_001353765.2:c.154C>A NP_001340694.1:p.Arg52=
NM_004304.4:c.3358C>A NP_004295.2:p.Arg1120=
ENST00000389048.7:c.3358C>A ENSP00000373700.3:p.Arg1120=
ENST00000431873.5:c.238C>A ENSP00000414027.2:p.Arg80=
ENST00000431873.6:c.585C>A
ENST00000453137.1:c.52C>A ENSP00000387488.1:p.Arg18=
ENST00000618119.4:c.2227C>A ENSP00000482733.1:p.Arg743=
ENST00000638605.1:n.235C>A
ENST00000642122.1:c.154C>A ENSP00000493203.1:p.Arg52=
XM_024452778.1:c.511C>A XP_024308546.1:p.Arg171=
XM_024452779.1:c.154C>A XP_024308547.1:p.Arg52=