Canonical Allele Identifier: CA1167985713
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061492G= , CM000663.2:g.55061492G= GRCh38
NC_000001.10:g.55527165G= , CM000663.1:g.55527165G= GRCh37
NC_000001.9:g.55299753G= NCBI36
NG_009061.1:g.26946G= , LRG_275:g.26946G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*139G= ENSP00000501161.2:n.*139G=
ENST00000710286.1:c.2156G= ENSP00000518176.1:p.Cys719=
ENST00000673903.1:c.1424G= ENSP00000501257.1:p.Cys475=
ENST00000673913.1:c.649G= ENSP00000501161.1:n.649G=
ENST00000302118.5:c.1799G= MANE Select ENSP00000303208.5:p.Cys600=
ENST00000490692.1:n.2345G=
NM_174936.3:c.1799G= , LRG_275t1:c.1799G= NP_777596.2:p.Cys600=
NR_110451.1:n.1406G=
XM_011541193.1:c.920G= XP_011539495.1:p.Cys307=
NM_174936.4:c.1799G= MANE Select NP_777596.2:p.Cys600=
NR_110451.2:n.1406G=