Canonical Allele Identifier: CA039595
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331957
ClinVar RCV Id: RCV001804473 RCV001885268
dbSNP Id: rs764653616
ExAC: 1:55529060 G / A
gnomAD v2: 1-55529060-G-A
gnomAD v3: 1-55063387-G-A
gnomAD v4: 1-55063387-G-A
COSMIC: COSM1687731
MyVariant Identifiers: chr1:g.55529060G>A (hg19) chr1:g.55063387G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063387G>A , CM000663.2:g.55063387G>A GRCh38
NC_000001.10:g.55529060G>A , CM000663.1:g.55529060G>A GRCh37
NC_000001.9:g.55301648G>A NCBI36
NG_009061.1:g.28841G>A , LRG_275:g.28841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*222G>A ENSP00000501161.2:n.*222G>A
ENST00000710286.1:c.2239G>A ENSP00000518176.1:p.Glu747Lys
ENST00000673903.1:c.1507G>A ENSP00000501257.1:p.Glu503Lys
ENST00000673913.1:c.732G>A ENSP00000501161.1:n.732G>A
ENST00000302118.5:c.1882G>A MANE Select ENSP00000303208.5:p.Glu628Lys
ENST00000490692.1:n.2428G>A
NM_174936.3:c.1882G>A , LRG_275t1:c.1882G>A NP_777596.2:p.Glu628Lys
NR_110451.1:n.1489G>A
XM_011541193.1:c.1003G>A XP_011539495.1:p.Glu335Lys
NM_174936.4:c.1882G>A MANE Select NP_777596.2:p.Glu628Lys
NR_110451.2:n.1489G>A
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