Canonical Allele Identifier: CA417957404
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1139726
ClinVar RCV Id: RCV001476559
dbSNP Id: rs747002272
gnomAD v4: 1-55039984-G-A
MyVariant Identifiers: chr1:g.55505657G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039984G>A , CM000663.2:g.55039984G>A GRCh38
NC_000001.10:g.55505657G>A , CM000663.1:g.55505657G>A GRCh37
NC_000001.9:g.55278245G>A NCBI36
NG_009061.1:g.5438G>A , LRG_275:g.5438G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.147G>A ENSP00000501161.2:p.Glu49=
ENST00000710286.1:c.504G>A ENSP00000518176.1:p.Glu168=
ENST00000673726.1:c.147G>A ENSP00000501004.1:p.Glu49=
ENST00000302118.5:c.147G>A MANE Select ENSP00000303208.5:p.Glu49=
NM_174936.3:c.147G>A , LRG_275t1:c.147G>A NP_777596.2:p.Glu49=
NM_174936.4:c.147G>A MANE Select NP_777596.2:p.Glu49=
Search 100 bp 5'
Search 100 bp 3'