Canonical Allele Identifier: CA1001923591
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1644781854
gnomAD v3: 1-55063871-A-G
gnomAD v4: 1-55063871-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063871A>G , CM000663.2:g.55063871A>G GRCh38
NC_000001.10:g.55529544A>G , CM000663.1:g.55529544A>G GRCh37
NC_000001.9:g.55302132A>G NCBI36
NG_009061.1:g.29325A>G , LRG_275:g.29325A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*706A>G ENSP00000501161.2:n.*706A>G
ENST00000710286.1:c.*287A>G ENSP00000518176.1:n.*287A>G
ENST00000673903.1:c.*287A>G ENSP00000501257.1:n.*287A>G
ENST00000302118.5:c.*287A>G MANE Select ENSP00000303208.5:n.*287A>G
ENST00000490692.1:n.2912A>G
NM_174936.3:c.*287A>G , LRG_275t1:c.*287A>G NP_777596.2:n.*287A>G
NR_110451.1:n.1973A>G
XM_011541193.1:c.*287A>G XP_011539495.1:n.*287A>G
NM_174936.4:c.*287A>G MANE Select NP_777596.2:n.*287A>G
NR_110451.2:n.1973A>G