Canonical Allele Identifier: CA038919
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 548105
ClinVar RCV Id: RCV000660746 RCV001101466 RCV001101465 RCV001186470 RCV003372799
dbSNP Id: rs367606156
ExAC: 1:55527158 G / A
gnomAD v2: 1-55527158-G-A
gnomAD v3: 1-55061485-G-A
gnomAD v4: 1-55061485-G-A
COSMIC: COSM910986
MyVariant Identifiers: chr1:g.55527158G>A (hg19) chr1:g.55061485G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061485G>A , CM000663.2:g.55061485G>A GRCh38
NC_000001.10:g.55527158G>A , CM000663.1:g.55527158G>A GRCh37
NC_000001.9:g.55299746G>A NCBI36
NG_009061.1:g.26939G>A , LRG_275:g.26939G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*132G>A ENSP00000501161.2:n.*132G>A
ENST00000710286.1:c.2149G>A ENSP00000518176.1:p.Ala717Thr
ENST00000673903.1:c.1417G>A ENSP00000501257.1:p.Ala473Thr
ENST00000673913.1:c.642G>A ENSP00000501161.1:n.642G>A
ENST00000302118.5:c.1792G>A MANE Select ENSP00000303208.5:p.Ala598Thr
ENST00000490692.1:n.2338G>A
NM_174936.3:c.1792G>A , LRG_275t1:c.1792G>A NP_777596.2:p.Ala598Thr
NR_110451.1:n.1399G>A
XM_011541193.1:c.913G>A XP_011539495.1:p.Ala305Thr
NM_174936.4:c.1792G>A MANE Select NP_777596.2:p.Ala598Thr
NR_110451.2:n.1399G>A
Search 100 bp 5'
Search 100 bp 3'