Canonical Allele Identifier: CA417960371

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059509-C-T
• MyVariant Identifiers: chr1:g.55525182C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059509C>T , CM000663.2:g.55059509C>T	GRCh38
NC_000001.10:g.55525182C>T , CM000663.1:g.55525182C>T	GRCh37
NC_000001.9:g.55297770C>T	NCBI36
NG_009061.1:g.24963C>T , LRG_275:g.24963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1527C>T	ENSP00000501161.2:p.Cys509=
ENST00000710286.1:c.1884C>T	ENSP00000518176.1:p.Cys628=
ENST00000673903.1:c.1152C>T	ENSP00000501257.1:p.Cys384=
ENST00000673913.1:c.267C>T	ENSP00000501161.1:p.Cys89=
ENST00000302118.5:c.1527C>T MANE Select	ENSP00000303208.5:p.Cys509=
ENST00000490692.1:n.2227+862C>T
NM_174936.3:c.1527C>T , LRG_275t1:c.1527C>T	NP_777596.2:p.Cys509=
NR_110451.1:n.1134C>T
XM_011541193.1:c.648C>T	XP_011539495.1:p.Cys216=
NM_174936.4:c.1527C>T MANE Select	NP_777596.2:p.Cys509=
NR_110451.2:n.1134C>T