Canonical Allele Identifier: CA417960530

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061460-G-T
• MyVariant Identifiers: chr1:g.55527133G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061460G>T , CM000663.2:g.55061460G>T	GRCh38
NC_000001.10:g.55527133G>T , CM000663.1:g.55527133G>T	GRCh37
NC_000001.9:g.55299721G>T	NCBI36
NG_009061.1:g.26914G>T , LRG_275:g.26914G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*107G>T	ENSP00000501161.2:n.*107G>T
ENST00000710286.1:c.2124G>T	ENSP00000518176.1:p.Val708=
ENST00000673903.1:c.1392G>T	ENSP00000501257.1:p.Val464=
ENST00000673913.1:c.617G>T	ENSP00000501161.1:n.617G>T
ENST00000302118.5:c.1767G>T MANE Select	ENSP00000303208.5:p.Val589=
ENST00000490692.1:n.2313G>T
NM_174936.3:c.1767G>T , LRG_275t1:c.1767G>T	NP_777596.2:p.Val589=
NR_110451.1:n.1374G>T
XM_011541193.1:c.888G>T	XP_011539495.1:p.Val296=
NM_174936.4:c.1767G>T MANE Select	NP_777596.2:p.Val589=
NR_110451.2:n.1374G>T