Canonical Allele Identifier: CA041091

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 297691
• ClinVar RCV Id: RCV000313414 ; RCV000403056
• dbSNP Id: rs28362202
• ExAC: 1:55505485 G / A
• gnomAD v2: 1-55505485-G-A
• gnomAD v3: 1-55039812-G-A
• gnomAD v4: 1-55039812-G-A
• MyVariant Identifiers: chr1:g.55505485G>A (hg19) ; chr1:g.55039812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039812G>A , CM000663.2:g.55039812G>A	GRCh38
NC_000001.10:g.55505485G>A , CM000663.1:g.55505485G>A	GRCh37
NC_000001.9:g.55278073G>A	NCBI36
NG_009061.1:g.5266G>A , LRG_275:g.5266G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.-26G>A	ENSP00000501161.2:n.-26G>A
ENST00000710286.1:c.332G>A	ENSP00000518176.1:p.Arg111Lys
ENST00000673726.1:c.-26G>A	ENSP00000501004.1:n.-26G>A
ENST00000302118.5:c.-26G>A MANE Select	ENSP00000303208.5:n.-26G>A
NM_174936.3:c.-26G>A , LRG_275t1:c.-26G>A	NP_777596.2:n.-26G>A
NM_174936.4:c.-26G>A MANE Select	NP_777596.2:n.-26G>A