Canonical Allele Identifier: CA1594638
Community Standard Title: NM_004304.5(ALK):c.1500A>C (p.Gln500His)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29320797T>G , CM000664.2:g.29320797T>G GRCh38
NC_000002.11:g.29543663T>G , CM000664.1:g.29543663T>G GRCh37
NC_000002.10:g.29397167T>G NCBI36
NG_009445.1:g.605770A>C , LRG_488:g.605770A>C

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.1500A>C MANE Select NP_004295.2:p.Gln500His
ENST00000389048.8:c.1500A>C MANE Select ENSP00000373700.3:p.Gln500His
NM_004304.4:c.1500A>C NP_004295.2:p.Gln500His
ENST00000389048.7:c.1500A>C ENSP00000373700.3:p.Gln500His
ENST00000618119.4:c.369A>C ENSP00000482733.1:p.Gln123His
XR_001738688.2:n.2430A>C
XR_244977.3:n.560+824T>G
XR_244977.4:n.459+824T>G
XR_939920.1:n.584-682T>G
XR_939920.2:n.474-682T>G
XR_939921.1:n.572-682T>G
XR_939921.2:n.468-682T>G
XR_939922.1:n.563-682T>G
XR_939922.2:n.462-682T>G
XR_939923.1:n.563-682T>G
XR_939923.3:n.462-682T>G
XR_939924.1:n.563-682T>G
XR_939924.2:n.462-682T>G
XR_939925.1:n.560+824T>G
XR_939925.2:n.459+824T>G
XR_939926.1:n.560+824T>G
XR_939926.2:n.459+824T>G