Canonical Allele Identifier: CA1594040
Community Standard Title: NM_004304.5(ALK):c.3179G>A (p.Arg1060His)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29223522C>T , CM000664.2:g.29223522C>T GRCh38
NC_000002.11:g.29446388C>T , CM000664.1:g.29446388C>T GRCh37
NC_000002.10:g.29299892C>T NCBI36
NG_009445.1:g.703045G>A , LRG_488:g.703045G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3179G>A MANE Select NP_004295.2:p.Arg1060His
ENST00000389048.8:c.3179G>A MANE Select ENSP00000373700.3:p.Arg1060His
NM_001353765.1:c.-26G>A NP_001340694.1:n.-26G>A
NM_001353765.2:c.-26G>A NP_001340694.1:n.-26G>A
NM_004304.4:c.3179G>A NP_004295.2:p.Arg1060His
ENST00000389048.7:c.3179G>A ENSP00000373700.3:p.Arg1060His
ENST00000431873.5:c.59G>A ENSP00000414027.2:p.Arg20His
ENST00000431873.6:c.406G>A
ENST00000618119.4:c.2048G>A ENSP00000482733.1:p.Arg683His
ENST00000638605.1:n.56G>A
ENST00000642122.1:c.-26G>A ENSP00000493203.1:n.-26G>A
XM_024452778.1:c.332G>A XP_024308546.1:p.Arg111His
XM_024452779.1:c.-26G>A XP_024308547.1:n.-26G>A
XR_001738688.2:n.4035G>A