Canonical Allele Identifier: CA034785
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 375848
ClinVar RCV Id: RCV000417231 RCV000775254 RCV002392944 RCV003418104 RCV003441852
dbSNP Id: rs764603059
ExAC: 1:55505613 G / T
gnomAD v2: 1-55505613-G-T
gnomAD v3: 1-55039940-G-T
gnomAD v4: 1-55039940-G-T
MyVariant Identifiers: chr1:g.55505613G>T (hg19) chr1:g.55039940G>T (hg38)
PubMed: PMID:22683120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039940G>T , CM000663.2:g.55039940G>T GRCh38
NC_000001.10:g.55505613G>T , CM000663.1:g.55505613G>T GRCh37
NC_000001.9:g.55278201G>T NCBI36
NG_009061.1:g.5394G>T , LRG_275:g.5394G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.103G>T ENSP00000501161.2:p.Asp35Tyr
ENST00000710286.1:c.460G>T ENSP00000518176.1:p.Asp154Tyr
ENST00000673726.1:c.103G>T ENSP00000501004.1:p.Asp35Tyr
ENST00000302118.5:c.103G>T MANE Select ENSP00000303208.5:p.Asp35Tyr
NM_174936.3:c.103G>T , LRG_275t1:c.103G>T NP_777596.2:p.Asp35Tyr
NM_174936.4:c.103G>T MANE Select NP_777596.2:p.Asp35Tyr
Search 100 bp 5'
Search 100 bp 3'