Canonical Allele Identifier: CA340479777
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1698493
ClinVar RCV Id: RCV002271770
dbSNP Id: rs891322948
gnomAD v4: 1-55059529-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059529G>A , CM000663.2:g.55059529G>A GRCh38
NC_000001.10:g.55525202G>A , CM000663.1:g.55525202G>A GRCh37
NC_000001.9:g.55297790G>A NCBI36
NG_009061.1:g.24983G>A , LRG_275:g.24983G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1547G>A ENSP00000501161.2:p.Gly516Glu
ENST00000710286.1:c.1904G>A ENSP00000518176.1:p.Gly635Glu
ENST00000673903.1:c.1172G>A ENSP00000501257.1:p.Gly391Glu
ENST00000673913.1:c.287G>A ENSP00000501161.1:p.Gly96Glu
ENST00000302118.5:c.1547G>A MANE Select ENSP00000303208.5:p.Gly516Glu
ENST00000490692.1:n.2227+882G>A
NM_174936.3:c.1547G>A , LRG_275t1:c.1547G>A NP_777596.2:p.Gly516Glu
NR_110451.1:n.1154G>A
XM_011541193.1:c.668G>A XP_011539495.1:p.Gly223Glu
NM_174936.4:c.1547G>A MANE Select NP_777596.2:p.Gly516Glu
NR_110451.2:n.1154G>A