Canonical Allele Identifier: CA1167986479
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063387G= , CM000663.2:g.55063387G= GRCh38
NC_000001.10:g.55529060G= , CM000663.1:g.55529060G= GRCh37
NC_000001.9:g.55301648G= NCBI36
NG_009061.1:g.28841G= , LRG_275:g.28841G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*222G= ENSP00000501161.2:n.*222G=
ENST00000710286.1:c.2239G= ENSP00000518176.1:p.Glu747=
ENST00000673903.1:c.1507G= ENSP00000501257.1:p.Glu503=
ENST00000673913.1:c.732G= ENSP00000501161.1:n.732G=
ENST00000302118.5:c.1882G= MANE Select ENSP00000303208.5:p.Glu628=
ENST00000490692.1:n.2428G=
NM_174936.3:c.1882G= , LRG_275t1:c.1882G= NP_777596.2:p.Glu628=
NR_110451.1:n.1489G=
XM_011541193.1:c.1003G= XP_011539495.1:p.Glu335=
NM_174936.4:c.1882G= MANE Select NP_777596.2:p.Glu628=
NR_110451.2:n.1489G=