Canonical Allele Identifier: CA417960234

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058193C>T , CM000663.2:g.55058193C>T	GRCh38
NC_000001.10:g.55523866C>T , CM000663.1:g.55523866C>T	GRCh37
NC_000001.9:g.55296454C>T	NCBI36
NG_009061.1:g.23647C>T , LRG_275:g.23647C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_174936.4:c.1338C>T MANE Select	NP_777596.2:p.Pro446=
ENST00000302118.5:c.1338C>T MANE Select	ENSP00000303208.5:p.Pro446=
NM_174936.3:c.1338C>T , LRG_275t1:c.1338C>T	NP_777596.2:p.Pro446=
NR_110451.1:n.961+36C>T
NR_110451.2:n.961+36C>T
ENST00000490692.1:n.2062C>T
ENST00000673903.1:c.963C>T	ENSP00000501257.1:p.Pro321=
ENST00000673913.1:c.78C>T	ENSP00000501161.1:p.Pro26=
ENST00000673913.2:c.1338C>T	ENSP00000501161.2:p.Pro446=
ENST00000710286.1:c.1695C>T	ENSP00000518176.1:p.Pro565=
XM_011541193.1:c.459C>T	XP_011539495.1:p.Pro153=