Canonical Allele Identifier: CA340480690
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072914
ClinVar RCV Id: RCV004014928
dbSNP Id: rs1644777670
gnomAD v3: 1-55063442-G-A
gnomAD v4: 1-55063442-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063442G>A , CM000663.2:g.55063442G>A GRCh38
NC_000001.10:g.55529115G>A , CM000663.1:g.55529115G>A GRCh37
NC_000001.9:g.55301703G>A NCBI36
NG_009061.1:g.28896G>A , LRG_275:g.28896G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*277G>A ENSP00000501161.2:n.*277G>A
ENST00000710286.1:c.2294G>A ENSP00000518176.1:p.Gly765Glu
ENST00000673903.1:c.1562G>A ENSP00000501257.1:p.Gly521Glu
ENST00000673913.1:c.787G>A ENSP00000501161.1:n.787G>A
ENST00000302118.5:c.1937G>A MANE Select ENSP00000303208.5:p.Gly646Glu
ENST00000490692.1:n.2483G>A
NM_174936.3:c.1937G>A , LRG_275t1:c.1937G>A NP_777596.2:p.Gly646Glu
NR_110451.1:n.1544G>A
XM_011541193.1:c.1058G>A XP_011539495.1:p.Gly353Glu
NM_174936.4:c.1937G>A MANE Select NP_777596.2:p.Gly646Glu
NR_110451.2:n.1544G>A