Canonical Allele Identifier: CA16602590
Community Standard Title: NM_004304.5(ALK):c.3806G>C (p.Gly1269Ala)
Gene: ALK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29209816C>G , CM000664.2:g.29209816C>G GRCh38
NC_000002.11:g.29432682C>G , CM000664.1:g.29432682C>G GRCh37
NC_000002.10:g.29286186C>G NCBI36
NG_009445.1:g.716751G>C , LRG_488:g.716751G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004304.5:c.3806G>C MANE Select NP_004295.2:p.Gly1269Ala
ENST00000389048.8:c.3806G>C MANE Select ENSP00000373700.3:p.Gly1269Ala
NM_001353765.1:c.602G>C NP_001340694.1:p.Gly201Ala
NM_001353765.2:c.602G>C NP_001340694.1:p.Gly201Ala
NM_004304.4:c.3806G>C NP_004295.2:p.Gly1269Ala
ENST00000389048.7:c.3806G>C ENSP00000373700.3:p.Gly1269Ala
ENST00000431873.5:c.686G>C ENSP00000414027.2:p.Gly229Ala
ENST00000431873.6:c.1033G>C
ENST00000618119.4:c.2675G>C ENSP00000482733.1:p.Gly892Ala
ENST00000638605.1:n.683G>C
ENST00000642122.1:c.602G>C ENSP00000493203.1:p.Gly201Ala
XM_024452778.1:c.959G>C XP_024308546.1:p.Gly320Ala
XM_024452779.1:c.602G>C XP_024308547.1:p.Gly201Ala