Canonical Allele Identifier: CA1143602164
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061457C= , CM000663.2:g.55061457C= GRCh38
NC_000001.10:g.55527130C= , CM000663.1:g.55527130C= GRCh37
NC_000001.9:g.55299718C= NCBI36
NG_009061.1:g.26911C= , LRG_275:g.26911C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*104C= ENSP00000501161.2:n.*104C=
ENST00000710286.1:c.2121C= ENSP00000518176.1:p.Cys707=
ENST00000673903.1:c.1389C= ENSP00000501257.1:p.Cys463=
ENST00000673913.1:c.614C= ENSP00000501161.1:n.614C=
ENST00000302118.5:c.1764C= MANE Select ENSP00000303208.5:p.Cys588=
ENST00000490692.1:n.2310C=
NM_174936.3:c.1764C= , LRG_275t1:c.1764C= NP_777596.2:p.Cys588=
NR_110451.1:n.1371C=
XM_011541193.1:c.885C= XP_011539495.1:p.Cys295=
NM_174936.4:c.1764C= MANE Select NP_777596.2:p.Cys588=
NR_110451.2:n.1371C=