Canonical Allele Identifier: CA1167985728
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061529G= , CM000663.2:g.55061529G= GRCh38
NC_000001.10:g.55527202G= , CM000663.1:g.55527202G= GRCh37
NC_000001.9:g.55299790G= NCBI36
NG_009061.1:g.26983G= , LRG_275:g.26983G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*176G= ENSP00000501161.2:n.*176G=
ENST00000710286.1:c.2193G= ENSP00000518176.1:p.Glu731=
ENST00000673903.1:c.1461G= ENSP00000501257.1:p.Glu487=
ENST00000673913.1:c.686G= ENSP00000501161.1:n.686G=
ENST00000302118.5:c.1836G= MANE Select ENSP00000303208.5:p.Glu612=
ENST00000490692.1:n.2382G=
NM_174936.3:c.1836G= , LRG_275t1:c.1836G= NP_777596.2:p.Glu612=
NR_110451.1:n.1443G=
XM_011541193.1:c.957G= XP_011539495.1:p.Glu319=
NM_174936.4:c.1836G= MANE Select NP_777596.2:p.Glu612=
NR_110451.2:n.1443G=