Canonical Allele Identifier: CA1143578440
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059625C= , CM000663.2:g.55059625C= GRCh38
NC_000001.10:g.55525298C= , CM000663.1:g.55525298C= GRCh37
NC_000001.9:g.55297886C= NCBI36
NG_009061.1:g.25079C= , LRG_275:g.25079C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1643C= ENSP00000501161.2:p.Thr548=
ENST00000710286.1:c.2000C= ENSP00000518176.1:p.Thr667=
ENST00000673903.1:c.1268C= ENSP00000501257.1:p.Thr423=
ENST00000673913.1:c.383C= ENSP00000501161.1:p.Thr128=
ENST00000302118.5:c.1643C= MANE Select ENSP00000303208.5:p.Thr548=
ENST00000490692.1:n.2227+978C=
NM_174936.3:c.1643C= , LRG_275t1:c.1643C= NP_777596.2:p.Thr548=
NR_110451.1:n.1250C=
XM_011541193.1:c.764C= XP_011539495.1:p.Thr255=
NM_174936.4:c.1643C= MANE Select NP_777596.2:p.Thr548=
NR_110451.2:n.1250C=