Canonical Allele Identifier: CA1167976454
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039971T= , CM000663.2:g.55039971T= GRCh38
NC_000001.10:g.55505644T= , CM000663.1:g.55505644T= GRCh37
NC_000001.9:g.55278232T= NCBI36
NG_009061.1:g.5425T= , LRG_275:g.5425T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.134T= ENSP00000501161.2:p.Leu45=
ENST00000710286.1:c.491T= ENSP00000518176.1:p.Leu164=
ENST00000673726.1:c.134T= ENSP00000501004.1:p.Leu45=
ENST00000302118.5:c.134T= MANE Select ENSP00000303208.5:p.Leu45=
NM_174936.3:c.134T= , LRG_275t1:c.134T= NP_777596.2:p.Leu45=
NM_174936.4:c.134T= MANE Select NP_777596.2:p.Leu45=