Canonical Allele Identifier: CA340482809
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039953A>C , CM000663.2:g.55039953A>C GRCh38
NC_000001.10:g.55505626A>C , CM000663.1:g.55505626A>C GRCh37
NC_000001.9:g.55278214A>C NCBI36
NG_009061.1:g.5407A>C , LRG_275:g.5407A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.116A>C ENSP00000501161.2:p.Glu39Ala
ENST00000710286.1:c.473A>C ENSP00000518176.1:p.Glu158Ala
ENST00000673726.1:c.116A>C ENSP00000501004.1:p.Glu39Ala
ENST00000302118.5:c.116A>C MANE Select ENSP00000303208.5:p.Glu39Ala
NM_174936.3:c.116A>C , LRG_275t1:c.116A>C NP_777596.2:p.Glu39Ala
NM_174936.4:c.116A>C MANE Select NP_777596.2:p.Glu39Ala