Canonical Allele Identifier: CA22791305
Gene: PCSK9 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.55039507C>A
GRCh37 chr1:g.55505180C>A
gnomAD v2:
1:55505180 C / A
gnomAD v3:
1:55039507 C / A
gnomAD v4:
chr1-55039507-C-A
Joint Max Group AF 0.00033082 (NFE)
Genomes Max Group AF 0.00031673 (NFE)
Exomes Max Group AF 0.00030496 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039507C>A , CM000663.2:g.55039507C>A GRCh38
NC_000001.10:g.55505180C>A , CM000663.1:g.55505180C>A GRCh37
NC_000001.9:g.55277768C>A NCBI36
NG_009061.1:g.4961C>A , LRG_275:g.4961C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-331C>A ENSP00000501161.2:n.-331C>A
ENST00000710286.1:c.27C>A ENSP00000518176.1:p.Arg9=
ENST00000673726.1:c.-331C>A ENSP00000501004.1:n.-331C>A
NM_174936.3:c.-331C>A , LRG_275t1:c.-331C>A NP_777596.2:n.-331C>A
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