Canonical Allele Identifier: CA036349

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058182G>A , CM000663.2:g.55058182G>A	GRCh38
NC_000001.10:g.55523855G>A , CM000663.1:g.55523855G>A	GRCh37
NC_000001.9:g.55296443G>A	NCBI36
NG_009061.1:g.23636G>A , LRG_275:g.23636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1327G>A	ENSP00000501161.2:p.Ala443Thr
ENST00000710286.1:c.1684G>A	ENSP00000518176.1:p.Ala562Thr
ENST00000673903.1:c.952G>A	ENSP00000501257.1:p.Ala318Thr
ENST00000673913.1:c.67G>A	ENSP00000501161.1:p.Ala23Thr
ENST00000302118.5:c.1327G>A MANE Select	ENSP00000303208.5:p.Ala443Thr
ENST00000490692.1:n.2051G>A
NM_174936.3:c.1327G>A , LRG_275t1:c.1327G>A	NP_777596.2:p.Ala443Thr
NR_110451.1:n.961+25G>A
XM_011541193.1:c.448G>A	XP_011539495.1:p.Ala150Thr
NM_174936.4:c.1327G>A MANE Select	NP_777596.2:p.Ala443Thr
NR_110451.2:n.961+25G>A