Canonical Allele Identifier: CA22765453

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059497C>A , CM000663.2:g.55059497C>A	GRCh38
NC_000001.10:g.55525170C>A , CM000663.1:g.55525170C>A	GRCh37
NC_000001.9:g.55297758C>A	NCBI36
NG_009061.1:g.24951C>A , LRG_275:g.24951C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_174936.4:c.1515C>A MANE Select	NP_777596.2:p.Gly505=
ENST00000302118.5:c.1515C>A MANE Select	ENSP00000303208.5:p.Gly505=
NM_174936.3:c.1515C>A , LRG_275t1:c.1515C>A	NP_777596.2:p.Gly505=
NR_110451.1:n.1122C>A
NR_110451.2:n.1122C>A
ENST00000490692.1:n.2227+850C>A
ENST00000673903.1:c.1140C>A	ENSP00000501257.1:p.Gly380=
ENST00000673913.1:c.255C>A	ENSP00000501161.1:p.Gly85=
ENST00000673913.2:c.1515C>A	ENSP00000501161.2:p.Gly505=
ENST00000710286.1:c.1872C>A	ENSP00000518176.1:p.Gly624=
XM_011541193.1:c.636C>A	XP_011539495.1:p.Gly212=