Canonical Allele Identifier: CA039511
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 918639
ClinVar RCV Id: RCV001176339 RCV004006289 RCV004032994
dbSNP Id: rs760437822
ExAC: 1:55529048 G / A
gnomAD v2: 1-55529048-G-A
gnomAD v3: 1-55063375-G-A
gnomAD v4: 1-55063375-G-A
MyVariant Identifiers: chr1:g.55529048G>A (hg19) chr1:g.55063375G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063375G>A , CM000663.2:g.55063375G>A GRCh38
NC_000001.10:g.55529048G>A , CM000663.1:g.55529048G>A GRCh37
NC_000001.9:g.55301636G>A NCBI36
NG_009061.1:g.28829G>A , LRG_275:g.28829G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*210G>A ENSP00000501161.2:n.*210G>A
ENST00000710286.1:c.2227G>A ENSP00000518176.1:p.Val743Met
ENST00000673903.1:c.1495G>A ENSP00000501257.1:p.Val499Met
ENST00000673913.1:c.720G>A ENSP00000501161.1:n.720G>A
ENST00000302118.5:c.1870G>A MANE Select ENSP00000303208.5:p.Val624Met
ENST00000490692.1:n.2416G>A
NM_174936.3:c.1870G>A , LRG_275t1:c.1870G>A NP_777596.2:p.Val624Met
NR_110451.1:n.1477G>A
XM_011541193.1:c.991G>A XP_011539495.1:p.Val331Met
NM_174936.4:c.1870G>A MANE Select NP_777596.2:p.Val624Met
NR_110451.2:n.1477G>A
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