Canonical Allele Identifier: CA1144022079

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061484C= , CM000663.2:g.55061484C=	GRCh38
NC_000001.10:g.55527157C= , CM000663.1:g.55527157C=	GRCh37
NC_000001.9:g.55299745C=	NCBI36
NG_009061.1:g.26938C= , LRG_275:g.26938C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*131C=	ENSP00000501161.2:n.*131C=
ENST00000710286.1:c.2148C=	ENSP00000518176.1:p.His716=
ENST00000673903.1:c.1416C=	ENSP00000501257.1:p.His472=
ENST00000673913.1:c.641C=	ENSP00000501161.1:n.641C=
ENST00000302118.5:c.1791C= MANE Select	ENSP00000303208.5:p.His597=
ENST00000490692.1:n.2337C=
NM_174936.3:c.1791C= , LRG_275t1:c.1791C=	NP_777596.2:p.His597=
NR_110451.1:n.1398C=
XM_011541193.1:c.912C=	XP_011539495.1:p.His304=
NM_174936.4:c.1791C= MANE Select	NP_777596.2:p.His597=
NR_110451.2:n.1398C=