Canonical Allele Identifier: CA023122
Gene: PCSK9 HGNC NCBI
COSMIC:
COSM3722998 (not active)
MyVariant.info:
GRCh38 chr1:g.55058564G>A
GRCh37 chr1:g.55524237G>A
Revel Score:
ENST00000302118 (MANE Select) 0.051
gnomAD v2:
1:55524237 G / A
gnomAD v3:
1:55058564 G / A
gnomAD v4:
chr1-55058564-G-A
Joint Max Group AF 0.97223736 (EAS)
Genomes Max Group AF 0.96819252 (EAS)
Exomes Max Group AF 0.97033673 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55058564G>A , CM000663.2:g.55058564G>A GRCh38
NC_000001.10:g.55524237G>A , CM000663.1:g.55524237G>A GRCh37
NC_000001.9:g.55296825G>A NCBI36
NG_009061.1:g.24018G>A , LRG_275:g.24018G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1420G>A ENSP00000501161.2:p.Val474Ile
ENST00000710286.1:c.1777G>A ENSP00000518176.1:p.Val593Ile
ENST00000673903.1:c.1045G>A ENSP00000501257.1:p.Val349Ile
ENST00000673913.1:c.160G>A ENSP00000501161.1:p.Val54Ile
ENST00000302118.5:c.1420G>A MANE Select ENSP00000303208.5:p.Val474Ile
ENST00000490692.1:n.2144G>A
NM_174936.3:c.1420G>A , LRG_275t1:c.1420G>A NP_777596.2:p.Val474Ile
NR_110451.1:n.1027G>A
XM_011541193.1:c.541G>A XP_011539495.1:p.Val181Ile
NM_174936.4:c.1420G>A MANE Select NP_777596.2:p.Val474Ile
NR_110451.2:n.1027G>A
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