Canonical Allele Identifier: CA417960533

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061463-C-T
• MyVariant Identifiers: chr1:g.55527136C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061463C>T , CM000663.2:g.55061463C>T	GRCh38
NC_000001.10:g.55527136C>T , CM000663.1:g.55527136C>T	GRCh37
NC_000001.9:g.55299724C>T	NCBI36
NG_009061.1:g.26917C>T , LRG_275:g.26917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*110C>T	ENSP00000501161.2:n.*110C>T
ENST00000710286.1:c.2127C>T	ENSP00000518176.1:p.Gly709=
ENST00000673903.1:c.1395C>T	ENSP00000501257.1:p.Gly465=
ENST00000673913.1:c.620C>T	ENSP00000501161.1:n.620C>T
ENST00000302118.5:c.1770C>T MANE Select	ENSP00000303208.5:p.Gly590=
ENST00000490692.1:n.2316C>T
NM_174936.3:c.1770C>T , LRG_275t1:c.1770C>T	NP_777596.2:p.Gly590=
NR_110451.1:n.1377C>T
XM_011541193.1:c.891C>T	XP_011539495.1:p.Gly297=
NM_174936.4:c.1770C>T MANE Select	NP_777596.2:p.Gly590=
NR_110451.2:n.1377C>T