Canonical Allele Identifier: CA1167986554
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063557G= , CM000663.2:g.55063557G= GRCh38
NC_000001.10:g.55529230G= , CM000663.1:g.55529230G= GRCh37
NC_000001.9:g.55301818G= NCBI36
NG_009061.1:g.29011G= , LRG_275:g.29011G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*392G= ENSP00000501161.2:n.*392G=
ENST00000710286.1:c.2409G= ENSP00000518176.1:p.Leu803=
ENST00000673903.1:c.1677G= ENSP00000501257.1:p.Leu559=
ENST00000302118.5:c.2052G= MANE Select ENSP00000303208.5:p.Leu684=
ENST00000490692.1:n.2598G=
NM_174936.3:c.2052G= , LRG_275t1:c.2052G= NP_777596.2:p.Leu684=
NR_110451.1:n.1659G=
XM_011541193.1:c.1173G= XP_011539495.1:p.Leu391=
NM_174936.4:c.2052G= MANE Select NP_777596.2:p.Leu684=
NR_110451.2:n.1659G=