Canonical Allele Identifier: CA340482801
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2758749
ClinVar RCV Id: RCV003500192
gnomAD v4: 1-55039950-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039950A>G , CM000663.2:g.55039950A>G GRCh38
NC_000001.10:g.55505623A>G , CM000663.1:g.55505623A>G GRCh37
NC_000001.9:g.55278211A>G NCBI36
NG_009061.1:g.5404A>G , LRG_275:g.5404A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.113A>G ENSP00000501161.2:p.Tyr38Cys
ENST00000710286.1:c.470A>G ENSP00000518176.1:p.Tyr157Cys
ENST00000673726.1:c.113A>G ENSP00000501004.1:p.Tyr38Cys
ENST00000302118.5:c.113A>G MANE Select ENSP00000303208.5:p.Tyr38Cys
NM_174936.3:c.113A>G , LRG_275t1:c.113A>G NP_777596.2:p.Tyr38Cys
NM_174936.4:c.113A>G MANE Select NP_777596.2:p.Tyr38Cys