Canonical Allele Identifier: CA340480451

Gene: PCSK9

Linked Data

• gnomAD v4: 1-55061518-A-G
• MyVariant Identifiers: chr1:g.55527191A>G (hg19) ; chr1:g.55061518A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55061518A>G , CM000663.2:g.55061518A>G	GRCh38
NC_000001.10:g.55527191A>G , CM000663.1:g.55527191A>G	GRCh37
NC_000001.9:g.55299779A>G	NCBI36
NG_009061.1:g.26972A>G , LRG_275:g.26972A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.*165A>G	ENSP00000501161.2:n.*165A>G
ENST00000710286.1:c.2182A>G	ENSP00000518176.1:p.Lys728Glu
ENST00000673903.1:c.1450A>G	ENSP00000501257.1:p.Lys484Glu
ENST00000673913.1:c.675A>G	ENSP00000501161.1:n.675A>G
ENST00000302118.5:c.1825A>G MANE Select	ENSP00000303208.5:p.Lys609Glu
ENST00000490692.1:n.2371A>G
NM_174936.3:c.1825A>G , LRG_275t1:c.1825A>G	NP_777596.2:p.Lys609Glu
NR_110451.1:n.1432A>G
XM_011541193.1:c.946A>G	XP_011539495.1:p.Lys316Glu
NM_174936.4:c.1825A>G MANE Select	NP_777596.2:p.Lys609Glu
NR_110451.2:n.1432A>G