Canonical Allele Identifier: CA417960572

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061538-C-A
• MyVariant Identifiers: chr1:g.55527211C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061538C>A , CM000663.2:g.55061538C>A	GRCh38
NC_000001.10:g.55527211C>A , CM000663.1:g.55527211C>A	GRCh37
NC_000001.9:g.55299799C>A	NCBI36
NG_009061.1:g.26992C>A , LRG_275:g.26992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*185C>A	ENSP00000501161.2:n.*185C>A
ENST00000710286.1:c.2202C>A	ENSP00000518176.1:p.Ile734=
ENST00000673903.1:c.1470C>A	ENSP00000501257.1:p.Ile490=
ENST00000673913.1:c.695C>A	ENSP00000501161.1:n.695C>A
ENST00000302118.5:c.1845C>A MANE Select	ENSP00000303208.5:p.Ile615=
ENST00000490692.1:n.2391C>A
NM_174936.3:c.1845C>A , LRG_275t1:c.1845C>A	NP_777596.2:p.Ile615=
NR_110451.1:n.1452C>A
XM_011541193.1:c.966C>A	XP_011539495.1:p.Ile322=
NM_174936.4:c.1845C>A MANE Select	NP_777596.2:p.Ile615=
NR_110451.2:n.1452C>A