Canonical Allele Identifier: CA1149054636

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063577T= , CM000663.2:g.55063577T=	GRCh38
NC_000001.10:g.55529250T= , CM000663.1:g.55529250T=	GRCh37
NC_000001.9:g.55301838T=	NCBI36
NG_009061.1:g.29031T= , LRG_275:g.29031T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*412T=	ENSP00000501161.2:n.*412T=
ENST00000710286.1:c.2429T=	ENSP00000518176.1:p.Leu810=
ENST00000673903.1:c.1697T=	ENSP00000501257.1:p.Leu566=
ENST00000302118.5:c.2072T= MANE Select	ENSP00000303208.5:p.Leu691=
ENST00000490692.1:n.2618T=
NM_174936.3:c.2072T= , LRG_275t1:c.2072T=	NP_777596.2:p.Leu691=
NR_110451.1:n.1679T=
XM_011541193.1:c.1193T=	XP_011539495.1:p.Leu398=
NM_174936.4:c.2072T= MANE Select	NP_777596.2:p.Leu691=
NR_110451.2:n.1679T=