Canonical Allele Identifier: CA346472184
Community Standard Title: NM_004304.5(ALK):c.1542C>G (p.His514Gln)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29320755G>C , CM000664.2:g.29320755G>C GRCh38
NC_000002.11:g.29543621G>C , CM000664.1:g.29543621G>C GRCh37
NC_000002.10:g.29397125G>C NCBI36
NG_009445.1:g.605812C>G , LRG_488:g.605812C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.1542C>G MANE Select NP_004295.2:p.His514Gln
ENST00000389048.8:c.1542C>G MANE Select ENSP00000373700.3:p.His514Gln
NM_004304.4:c.1542C>G NP_004295.2:p.His514Gln
ENST00000389048.7:c.1542C>G ENSP00000373700.3:p.His514Gln
ENST00000618119.4:c.411C>G ENSP00000482733.1:p.His137Gln
XR_001738688.2:n.2472C>G
XR_244977.3:n.560+782G>C
XR_244977.4:n.459+782G>C
XR_939920.1:n.584-724G>C
XR_939920.2:n.474-724G>C
XR_939921.1:n.572-724G>C
XR_939921.2:n.468-724G>C
XR_939922.1:n.563-724G>C
XR_939922.2:n.462-724G>C
XR_939923.1:n.563-724G>C
XR_939923.3:n.462-724G>C
XR_939924.1:n.563-724G>C
XR_939924.2:n.462-724G>C
XR_939925.1:n.560+782G>C
XR_939925.2:n.459+782G>C
XR_939926.1:n.560+782G>C
XR_939926.2:n.459+782G>C