Canonical Allele Identifier: CA340480326

Gene: PCSK9

Linked Data

• dbSNP Id: rs2100337378
• gnomAD v4: 1-55061462-G-A
• MyVariant Identifiers: chr1:g.55527135G>A (hg19) ; chr1:g.55061462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061462G>A , CM000663.2:g.55061462G>A	GRCh38
NC_000001.10:g.55527135G>A , CM000663.1:g.55527135G>A	GRCh37
NC_000001.9:g.55299723G>A	NCBI36
NG_009061.1:g.26916G>A , LRG_275:g.26916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*109G>A	ENSP00000501161.2:n.*109G>A
ENST00000710286.1:c.2126G>A	ENSP00000518176.1:p.Gly709Asp
ENST00000673903.1:c.1394G>A	ENSP00000501257.1:p.Gly465Asp
ENST00000673913.1:c.619G>A	ENSP00000501161.1:n.619G>A
ENST00000302118.5:c.1769G>A MANE Select	ENSP00000303208.5:p.Gly590Asp
ENST00000490692.1:n.2315G>A
NM_174936.3:c.1769G>A , LRG_275t1:c.1769G>A	NP_777596.2:p.Gly590Asp
NR_110451.1:n.1376G>A
XM_011541193.1:c.890G>A	XP_011539495.1:p.Gly297Asp
NM_174936.4:c.1769G>A MANE Select	NP_777596.2:p.Gly590Asp
NR_110451.2:n.1376G>A