Canonical Allele Identifier: CA22767041
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073786
ClinVar RCV Id: RCV004016792
dbSNP Id: rs578162610
gnomAD v2: 1-55527147-C-A
gnomAD v3: 1-55061474-C-A
gnomAD v4: 1-55061474-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061474C>A , CM000663.2:g.55061474C>A GRCh38
NC_000001.10:g.55527147C>A , CM000663.1:g.55527147C>A GRCh37
NC_000001.9:g.55299735C>A NCBI36
NG_009061.1:g.26928C>A , LRG_275:g.26928C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*121C>A ENSP00000501161.2:n.*121C>A
ENST00000710286.1:c.2138C>A ENSP00000518176.1:p.Ala713Asp
ENST00000673903.1:c.1406C>A ENSP00000501257.1:p.Ala469Asp
ENST00000673913.1:c.631C>A ENSP00000501161.1:n.631C>A
ENST00000302118.5:c.1781C>A MANE Select ENSP00000303208.5:p.Ala594Asp
ENST00000490692.1:n.2327C>A
NM_174936.3:c.1781C>A , LRG_275t1:c.1781C>A NP_777596.2:p.Ala594Asp
NR_110451.1:n.1388C>A
XM_011541193.1:c.902C>A XP_011539495.1:p.Ala301Asp
NM_174936.4:c.1781C>A MANE Select NP_777596.2:p.Ala594Asp
NR_110451.2:n.1388C>A