Canonical Allele Identifier: CA340482662
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039877C>A , CM000663.2:g.55039877C>A GRCh38
NC_000001.10:g.55505550C>A , CM000663.1:g.55505550C>A GRCh37
NC_000001.9:g.55278138C>A NCBI36
NG_009061.1:g.5331C>A , LRG_275:g.5331C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.40C>A ENSP00000501161.2:p.Pro14Thr
ENST00000710286.1:c.397C>A ENSP00000518176.1:p.Pro133Thr
ENST00000673726.1:c.40C>A ENSP00000501004.1:p.Pro14Thr
ENST00000302118.5:c.40C>A MANE Select ENSP00000303208.5:p.Pro14Thr
NM_174936.3:c.40C>A , LRG_275t1:c.40C>A NP_777596.2:p.Pro14Thr
NM_174936.4:c.40C>A MANE Select NP_777596.2:p.Pro14Thr