Canonical Allele Identifier: CA2645836417
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039665-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039665A>G , CM000663.2:g.55039665A>G GRCh38
NC_000001.10:g.55505338A>G , CM000663.1:g.55505338A>G GRCh37
NC_000001.9:g.55277926A>G NCBI36
NG_009061.1:g.5119A>G , LRG_275:g.5119A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-173A>G ENSP00000501161.2:n.-173A>G
ENST00000710286.1:c.185A>G ENSP00000518176.1:p.Gln62Arg
ENST00000673726.1:c.-173A>G ENSP00000501004.1:n.-173A>G
ENST00000302118.5:c.-173A>G MANE Select ENSP00000303208.5:n.-173A>G
NM_174936.3:c.-173A>G , LRG_275t1:c.-173A>G NP_777596.2:n.-173A>G
NM_174936.4:c.-173A>G MANE Select NP_777596.2:n.-173A>G