Canonical Allele Identifier: CA340479919
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059567C>A , CM000663.2:g.55059567C>A GRCh38
NC_000001.10:g.55525240C>A , CM000663.1:g.55525240C>A GRCh37
NC_000001.9:g.55297828C>A NCBI36
NG_009061.1:g.25021C>A , LRG_275:g.25021C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1585C>A ENSP00000501161.2:p.Leu529Ile
ENST00000710286.1:c.1942C>A ENSP00000518176.1:p.Leu648Ile
ENST00000673903.1:c.1210C>A ENSP00000501257.1:p.Leu404Ile
ENST00000673913.1:c.325C>A ENSP00000501161.1:p.Leu109Ile
ENST00000302118.5:c.1585C>A MANE Select ENSP00000303208.5:p.Leu529Ile
ENST00000490692.1:n.2227+920C>A
NM_174936.3:c.1585C>A , LRG_275t1:c.1585C>A NP_777596.2:p.Leu529Ile
NR_110451.1:n.1192C>A
XM_011541193.1:c.706C>A XP_011539495.1:p.Leu236Ile
NM_174936.4:c.1585C>A MANE Select NP_777596.2:p.Leu529Ile
NR_110451.2:n.1192C>A