Canonical Allele Identifier: CA340482833
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039965T>G , CM000663.2:g.55039965T>G GRCh38
NC_000001.10:g.55505638T>G , CM000663.1:g.55505638T>G GRCh37
NC_000001.9:g.55278226T>G NCBI36
NG_009061.1:g.5419T>G , LRG_275:g.5419T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.128T>G ENSP00000501161.2:p.Leu43Arg
ENST00000710286.1:c.485T>G ENSP00000518176.1:p.Leu162Arg
ENST00000673726.1:c.128T>G ENSP00000501004.1:p.Leu43Arg
ENST00000302118.5:c.128T>G MANE Select ENSP00000303208.5:p.Leu43Arg
NM_174936.3:c.128T>G , LRG_275t1:c.128T>G NP_777596.2:p.Leu43Arg
NM_174936.4:c.128T>G MANE Select NP_777596.2:p.Leu43Arg