Canonical Allele Identifier: CA038840
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs774174877
gnomAD v2: 1-55527138-A-G
gnomAD v4: 1-55061465-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061465A>G , CM000663.2:g.55061465A>G GRCh38
NC_000001.10:g.55527138A>G , CM000663.1:g.55527138A>G GRCh37
NC_000001.9:g.55299726A>G NCBI36
NG_009061.1:g.26919A>G , LRG_275:g.26919A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*112A>G ENSP00000501161.2:n.*112A>G
ENST00000710286.1:c.2129A>G ENSP00000518176.1:p.His710Arg
ENST00000673903.1:c.1397A>G ENSP00000501257.1:p.His466Arg
ENST00000673913.1:c.622A>G ENSP00000501161.1:n.622A>G
ENST00000302118.5:c.1772A>G MANE Select ENSP00000303208.5:p.His591Arg
ENST00000490692.1:n.2318A>G
NM_174936.3:c.1772A>G , LRG_275t1:c.1772A>G NP_777596.2:p.His591Arg
NR_110451.1:n.1379A>G
XM_011541193.1:c.893A>G XP_011539495.1:p.His298Arg
NM_174936.4:c.1772A>G MANE Select NP_777596.2:p.His591Arg
NR_110451.2:n.1379A>G