Canonical Allele Identifier: CA1167986544

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55063532C= , CM000663.2:g.55063532C=	GRCh38
NC_000001.10:g.55529205C= , CM000663.1:g.55529205C=	GRCh37
NC_000001.9:g.55301793C=	NCBI36
NG_009061.1:g.28986C= , LRG_275:g.28986C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*367C=	ENSP00000501161.2:n.*367C=
ENST00000710286.1:c.2384C=	ENSP00000518176.1:p.Ala795=
ENST00000673903.1:c.1652C=	ENSP00000501257.1:p.Ala551=
ENST00000302118.5:c.2027C= MANE Select	ENSP00000303208.5:p.Ala676=
ENST00000490692.1:n.2573C=
NM_174936.3:c.2027C= , LRG_275t1:c.2027C=	NP_777596.2:p.Ala676=
NR_110451.1:n.1634C=
XM_011541193.1:c.1148C=	XP_011539495.1:p.Ala383=
NM_174936.4:c.2027C= MANE Select	NP_777596.2:p.Ala676=
NR_110451.2:n.1634C=