Canonical Allele Identifier: CA1167985727

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061528A= , CM000663.2:g.55061528A=	GRCh38
NC_000001.10:g.55527201A= , CM000663.1:g.55527201A=	GRCh37
NC_000001.9:g.55299789A=	NCBI36
NG_009061.1:g.26982A= , LRG_275:g.26982A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*175A=	ENSP00000501161.2:n.*175A=
ENST00000710286.1:c.2192A=	ENSP00000518176.1:p.Glu731=
ENST00000673903.1:c.1460A=	ENSP00000501257.1:p.Glu487=
ENST00000673913.1:c.685A=	ENSP00000501161.1:n.685A=
ENST00000302118.5:c.1835A= MANE Select	ENSP00000303208.5:p.Glu612=
ENST00000490692.1:n.2381A=
NM_174936.3:c.1835A= , LRG_275t1:c.1835A=	NP_777596.2:p.Glu612=
NR_110451.1:n.1442A=
XM_011541193.1:c.956A=	XP_011539495.1:p.Glu319=
NM_174936.4:c.1835A= MANE Select	NP_777596.2:p.Glu612=
NR_110451.2:n.1442A=