Canonical Allele Identifier: CA1167986495

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063418T= , CM000663.2:g.55063418T=	GRCh38
NC_000001.10:g.55529091T= , CM000663.1:g.55529091T=	GRCh37
NC_000001.9:g.55301679T=	NCBI36
NG_009061.1:g.28872T= , LRG_275:g.28872T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*253T=	ENSP00000501161.2:n.*253T=
ENST00000710286.1:c.2270T=	ENSP00000518176.1:p.Leu757=
ENST00000673903.1:c.1538T=	ENSP00000501257.1:p.Leu513=
ENST00000673913.1:c.763T=	ENSP00000501161.1:n.763T=
ENST00000302118.5:c.1913T= MANE Select	ENSP00000303208.5:p.Leu638=
ENST00000490692.1:n.2459T=
NM_174936.3:c.1913T= , LRG_275t1:c.1913T=	NP_777596.2:p.Leu638=
NR_110451.1:n.1520T=
XM_011541193.1:c.1034T=	XP_011539495.1:p.Leu345=
NM_174936.4:c.1913T= MANE Select	NP_777596.2:p.Leu638=
NR_110451.2:n.1520T=