Canonical Allele Identifier: CA1594629
Community Standard Title: NM_004304.5(ALK):c.1529G>A (p.Arg510Gln)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29320768C>T , CM000664.2:g.29320768C>T GRCh38
NC_000002.11:g.29543634C>T , CM000664.1:g.29543634C>T GRCh37
NC_000002.10:g.29397138C>T NCBI36
NG_009445.1:g.605799G>A , LRG_488:g.605799G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.1529G>A MANE Select NP_004295.2:p.Arg510Gln
ENST00000389048.8:c.1529G>A MANE Select ENSP00000373700.3:p.Arg510Gln
NM_004304.4:c.1529G>A NP_004295.2:p.Arg510Gln
ENST00000389048.7:c.1529G>A ENSP00000373700.3:p.Arg510Gln
ENST00000618119.4:c.398G>A ENSP00000482733.1:p.Arg133Gln
XR_001738688.2:n.2459G>A
XR_244977.3:n.560+795C>T
XR_244977.4:n.459+795C>T
XR_939920.1:n.584-711C>T
XR_939920.2:n.474-711C>T
XR_939921.1:n.572-711C>T
XR_939921.2:n.468-711C>T
XR_939922.1:n.563-711C>T
XR_939922.2:n.462-711C>T
XR_939923.1:n.563-711C>T
XR_939923.3:n.462-711C>T
XR_939924.1:n.563-711C>T
XR_939924.2:n.462-711C>T
XR_939925.1:n.560+795C>T
XR_939925.2:n.459+795C>T
XR_939926.1:n.560+795C>T
XR_939926.2:n.459+795C>T