Canonical Allele Identifier: CA417960443

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059614-C-T
• MyVariant Identifiers: chr1:g.55525287C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059614C>T , CM000663.2:g.55059614C>T	GRCh38
NC_000001.10:g.55525287C>T , CM000663.1:g.55525287C>T	GRCh37
NC_000001.9:g.55297875C>T	NCBI36
NG_009061.1:g.25068C>T , LRG_275:g.25068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1632C>T	ENSP00000501161.2:p.Ala544=
ENST00000710286.1:c.1989C>T	ENSP00000518176.1:p.Ala663=
ENST00000673903.1:c.1257C>T	ENSP00000501257.1:p.Ala419=
ENST00000673913.1:c.372C>T	ENSP00000501161.1:p.Ala124=
ENST00000302118.5:c.1632C>T MANE Select	ENSP00000303208.5:p.Ala544=
ENST00000490692.1:n.2227+967C>T
NM_174936.3:c.1632C>T , LRG_275t1:c.1632C>T	NP_777596.2:p.Ala544=
NR_110451.1:n.1239C>T
XM_011541193.1:c.753C>T	XP_011539495.1:p.Ala251=
NM_174936.4:c.1632C>T MANE Select	NP_777596.2:p.Ala544=
NR_110451.2:n.1239C>T