Canonical Allele Identifier: CA2839619719
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55053123G>A , CM000663.2:g.55053123G>A GRCh38
NC_000001.10:g.55518796G>A , CM000663.1:g.55518796G>A GRCh37
NC_000001.9:g.55291384G>A NCBI36
NG_009061.1:g.18577G>A , LRG_275:g.18577G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.799+332G>A ENSP00000501161.2:n.799+332G>A
ENST00000710286.1:c.1156+332G>A ENSP00000518176.1:n.1156+332G>A
ENST00000673903.1:c.424+332G>A ENSP00000501257.1:n.424+332G>A
ENST00000302118.5:c.799+332G>A MANE Select ENSP00000303208.5:n.799+332G>A
ENST00000490692.1:n.1620+332G>A
NM_174936.3:c.799+332G>A , LRG_275t1:c.799+332G>A NP_777596.2:n.799+332G>A
NR_110451.1:n.458+332G>A
NM_174936.4:c.799+332G>A MANE Select NP_777596.2:n.799+332G>A
NR_110451.2:n.458+332G>A