Canonical Allele Identifier: CA10610176
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 297708
dbSNP Id: rs886046435
gnomAD v4: 1-55063510-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063510G>A , CM000663.2:g.55063510G>A GRCh38
NC_000001.10:g.55529183G>A , CM000663.1:g.55529183G>A GRCh37
NC_000001.9:g.55301771G>A NCBI36
NG_009061.1:g.28964G>A , LRG_275:g.28964G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*345G>A ENSP00000501161.2:n.*345G>A
ENST00000710286.1:c.2362G>A ENSP00000518176.1:p.Glu788Lys
ENST00000673903.1:c.1630G>A ENSP00000501257.1:p.Glu544Lys
ENST00000673913.1:c.855G>A ENSP00000501161.1:n.855G>A
ENST00000302118.5:c.2005G>A MANE Select ENSP00000303208.5:p.Glu669Lys
ENST00000490692.1:n.2551G>A
NM_174936.3:c.2005G>A , LRG_275t1:c.2005G>A NP_777596.2:p.Glu669Lys
NR_110451.1:n.1612G>A
XM_011541193.1:c.1126G>A XP_011539495.1:p.Glu376Lys
NM_174936.4:c.2005G>A MANE Select NP_777596.2:p.Glu669Lys
NR_110451.2:n.1612G>A