Canonical Allele Identifier: CA340479794

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55059534-G-A
• MyVariant Identifiers: chr1:g.55525207G>A (hg19) ; chr1:g.55059534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55059534G>A , CM000663.2:g.55059534G>A	GRCh38
NC_000001.10:g.55525207G>A , CM000663.1:g.55525207G>A	GRCh37
NC_000001.9:g.55297795G>A	NCBI36
NG_009061.1:g.24988G>A , LRG_275:g.24988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1552G>A	ENSP00000501161.2:p.Glu518Lys
ENST00000710286.1:c.1909G>A	ENSP00000518176.1:p.Glu637Lys
ENST00000673903.1:c.1177G>A	ENSP00000501257.1:p.Glu393Lys
ENST00000673913.1:c.292G>A	ENSP00000501161.1:p.Glu98Lys
ENST00000302118.5:c.1552G>A MANE Select	ENSP00000303208.5:p.Glu518Lys
ENST00000490692.1:n.2227+887G>A
NM_174936.3:c.1552G>A , LRG_275t1:c.1552G>A	NP_777596.2:p.Glu518Lys
NR_110451.1:n.1159G>A
XM_011541193.1:c.673G>A	XP_011539495.1:p.Glu225Lys
NM_174936.4:c.1552G>A MANE Select	NP_777596.2:p.Glu518Lys
NR_110451.2:n.1159G>A