Canonical Allele Identifier: CA417960536

Gene: PCSK9

Linked Data

• dbSNP Id: rs1385490618
• gnomAD v2: 1-55527142-G-A
• MyVariant Identifiers: chr1:g.55527142G>A (hg19) ; chr1:g.55061469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061469G>A , CM000663.2:g.55061469G>A	GRCh38
NC_000001.10:g.55527142G>A , CM000663.1:g.55527142G>A	GRCh37
NC_000001.9:g.55299730G>A	NCBI36
NG_009061.1:g.26923G>A , LRG_275:g.26923G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*116G>A	ENSP00000501161.2:n.*116G>A
ENST00000710286.1:c.2133G>A	ENSP00000518176.1:p.Arg711=
ENST00000673903.1:c.1401G>A	ENSP00000501257.1:p.Arg467=
ENST00000673913.1:c.626G>A	ENSP00000501161.1:n.626G>A
ENST00000302118.5:c.1776G>A MANE Select	ENSP00000303208.5:p.Arg592=
ENST00000490692.1:n.2322G>A
NM_174936.3:c.1776G>A , LRG_275t1:c.1776G>A	NP_777596.2:p.Arg592=
NR_110451.1:n.1383G>A
XM_011541193.1:c.897G>A	XP_011539495.1:p.Arg299=
NM_174936.4:c.1776G>A MANE Select	NP_777596.2:p.Arg592=
NR_110451.2:n.1383G>A