Canonical Allele Identifier: CA1594008
Community Standard Title: NM_004304.5(ALK):c.3331G>T (p.Val1111Leu)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29223370C>A , CM000664.2:g.29223370C>A GRCh38
NC_000002.11:g.29446236C>A , CM000664.1:g.29446236C>A GRCh37
NC_000002.10:g.29299740C>A NCBI36
NG_009445.1:g.703197G>T , LRG_488:g.703197G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3331G>T MANE Select NP_004295.2:p.Val1111Leu
ENST00000389048.8:c.3331G>T MANE Select ENSP00000373700.3:p.Val1111Leu
NM_001353765.1:c.127G>T NP_001340694.1:p.Val43Leu
NM_001353765.2:c.127G>T NP_001340694.1:p.Val43Leu
NM_004304.4:c.3331G>T NP_004295.2:p.Val1111Leu
ENST00000389048.7:c.3331G>T ENSP00000373700.3:p.Val1111Leu
ENST00000431873.5:c.211G>T ENSP00000414027.2:p.Val71Leu
ENST00000431873.6:c.558G>T
ENST00000453137.1:c.25G>T ENSP00000387488.1:p.Val9Leu
ENST00000618119.4:c.2200G>T ENSP00000482733.1:p.Val734Leu
ENST00000638605.1:n.208G>T
ENST00000642122.1:c.127G>T ENSP00000493203.1:p.Val43Leu
XM_024452778.1:c.484G>T XP_024308546.1:p.Val162Leu
XM_024452779.1:c.127G>T XP_024308547.1:p.Val43Leu