Canonical Allele Identifier: CA039099
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 523717
ClinVar RCV Id: RCV000627171 RCV001185960 RCV002413780 RCV004002762
dbSNP Id: rs754936553
ExAC: 1:55527216 C / A
gnomAD v2: 1-55527216-C-A
gnomAD v3: 1-55061543-C-A
gnomAD v4: 1-55061543-C-A
COSMIC: COSM88103
MyVariant Identifiers: chr1:g.55527216C>A (hg19) chr1:g.55061543C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061543C>A , CM000663.2:g.55061543C>A GRCh38
NC_000001.10:g.55527216C>A , CM000663.1:g.55527216C>A GRCh37
NC_000001.9:g.55299804C>A NCBI36
NG_009061.1:g.26997C>A , LRG_275:g.26997C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*190C>A ENSP00000501161.2:n.*190C>A
ENST00000710286.1:c.2207C>A ENSP00000518176.1:p.Ala736Asp
ENST00000673903.1:c.1475C>A ENSP00000501257.1:p.Ala492Asp
ENST00000673913.1:c.700C>A ENSP00000501161.1:n.700C>A
ENST00000302118.5:c.1850C>A MANE Select ENSP00000303208.5:p.Ala617Asp
ENST00000490692.1:n.2396C>A
NM_174936.3:c.1850C>A , LRG_275t1:c.1850C>A NP_777596.2:p.Ala617Asp
NR_110451.1:n.1457C>A
XM_011541193.1:c.971C>A XP_011539495.1:p.Ala324Asp
NM_174936.4:c.1850C>A MANE Select NP_777596.2:p.Ala617Asp
NR_110451.2:n.1457C>A
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