Canonical Allele Identifier: CA1167985731

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061532T= , CM000663.2:g.55061532T=	GRCh38
NC_000001.10:g.55527205T= , CM000663.1:g.55527205T=	GRCh37
NC_000001.9:g.55299793T=	NCBI36
NG_009061.1:g.26986T= , LRG_275:g.26986T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*179T=	ENSP00000501161.2:n.*179T=
ENST00000710286.1:c.2196T=	ENSP00000518176.1:p.His732=
ENST00000673903.1:c.1464T=	ENSP00000501257.1:p.His488=
ENST00000673913.1:c.689T=	ENSP00000501161.1:n.689T=
ENST00000302118.5:c.1839T= MANE Select	ENSP00000303208.5:p.His613=
ENST00000490692.1:n.2385T=
NM_174936.3:c.1839T= , LRG_275t1:c.1839T=	NP_777596.2:p.His613=
NR_110451.1:n.1446T=
XM_011541193.1:c.960T=	XP_011539495.1:p.His320=
NM_174936.4:c.1839T= MANE Select	NP_777596.2:p.His613=
NR_110451.2:n.1446T=