Canonical Allele Identifier: CA1167984903
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059536G= , CM000663.2:g.55059536G= GRCh38
NC_000001.10:g.55525209G= , CM000663.1:g.55525209G= GRCh37
NC_000001.9:g.55297797G= NCBI36
NG_009061.1:g.24990G= , LRG_275:g.24990G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1554G= ENSP00000501161.2:p.Glu518=
ENST00000710286.1:c.1911G= ENSP00000518176.1:p.Glu637=
ENST00000673903.1:c.1179G= ENSP00000501257.1:p.Glu393=
ENST00000673913.1:c.294G= ENSP00000501161.1:p.Glu98=
ENST00000302118.5:c.1554G= MANE Select ENSP00000303208.5:p.Glu518=
ENST00000490692.1:n.2227+889G=
NM_174936.3:c.1554G= , LRG_275t1:c.1554G= NP_777596.2:p.Glu518=
NR_110451.1:n.1161G=
XM_011541193.1:c.675G= XP_011539495.1:p.Glu225=
NM_174936.4:c.1554G= MANE Select NP_777596.2:p.Glu518=
NR_110451.2:n.1161G=