Canonical Allele Identifier: CA1167984911
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059564C= , CM000663.2:g.55059564C= GRCh38
NC_000001.10:g.55525237C= , CM000663.1:g.55525237C= GRCh37
NC_000001.9:g.55297825C= NCBI36
NG_009061.1:g.25018C= , LRG_275:g.25018C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1582C= ENSP00000501161.2:p.Leu528=
ENST00000710286.1:c.1939C= ENSP00000518176.1:p.Leu647=
ENST00000673903.1:c.1207C= ENSP00000501257.1:p.Leu403=
ENST00000673913.1:c.322C= ENSP00000501161.1:p.Leu108=
ENST00000302118.5:c.1582C= MANE Select ENSP00000303208.5:p.Leu528=
ENST00000490692.1:n.2227+917C=
NM_174936.3:c.1582C= , LRG_275t1:c.1582C= NP_777596.2:p.Leu528=
NR_110451.1:n.1189C=
XM_011541193.1:c.703C= XP_011539495.1:p.Leu235=
NM_174936.4:c.1582C= MANE Select NP_777596.2:p.Leu528=
NR_110451.2:n.1189C=