Canonical Allele Identifier: CA340482845
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3073993
ClinVar RCV Id: RCV004012535
gnomAD v4: 1-55039973-C-A
MyVariant Identifiers: chr1:g.55505646C>A (hg19) chr1:g.55039973C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039973C>A , CM000663.2:g.55039973C>A GRCh38
NC_000001.10:g.55505646C>A , CM000663.1:g.55505646C>A GRCh37
NC_000001.9:g.55278234C>A NCBI36
NG_009061.1:g.5427C>A , LRG_275:g.5427C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.136C>A ENSP00000501161.2:p.Arg46Ser
ENST00000710286.1:c.493C>A ENSP00000518176.1:p.Arg165Ser
ENST00000673726.1:c.136C>A ENSP00000501004.1:p.Arg46Ser
ENST00000302118.5:c.136C>A MANE Select ENSP00000303208.5:p.Arg46Ser
NM_174936.3:c.136C>A , LRG_275t1:c.136C>A NP_777596.2:p.Arg46Ser
NM_174936.4:c.136C>A MANE Select NP_777596.2:p.Arg46Ser
Search 100 bp 5'
Search 100 bp 3'