Canonical Allele Identifier: CA1593844
Community Standard Title: NM_004304.5(ALK):c.3626G>A (p.Arg1209Gln)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29220725C>T , CM000664.2:g.29220725C>T GRCh38
NC_000002.11:g.29443591C>T , CM000664.1:g.29443591C>T GRCh37
NC_000002.10:g.29297095C>T NCBI36
NG_009445.1:g.705842G>A , LRG_488:g.705842G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3626G>A MANE Select NP_004295.2:p.Arg1209Gln
ENST00000389048.8:c.3626G>A MANE Select ENSP00000373700.3:p.Arg1209Gln
NM_001353765.1:c.422G>A NP_001340694.1:p.Arg141Gln
NM_001353765.2:c.422G>A NP_001340694.1:p.Arg141Gln
NM_004304.4:c.3626G>A NP_004295.2:p.Arg1209Gln
ENST00000389048.7:c.3626G>A ENSP00000373700.3:p.Arg1209Gln
ENST00000431873.5:c.506G>A ENSP00000414027.2:p.Arg169Gln
ENST00000431873.6:c.853G>A
ENST00000618119.4:c.2495G>A ENSP00000482733.1:p.Arg832Gln
ENST00000638605.1:n.503G>A
ENST00000642122.1:c.422G>A ENSP00000493203.1:p.Arg141Gln
XM_024452778.1:c.779G>A XP_024308546.1:p.Arg260Gln
XM_024452779.1:c.422G>A XP_024308547.1:p.Arg141Gln