Canonical Allele Identifier: CA417960573

Gene: PCSK9

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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