Canonical Allele Identifier: CA1167984924
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059599T= , CM000663.2:g.55059599T= GRCh38
NC_000001.10:g.55525272T= , CM000663.1:g.55525272T= GRCh37
NC_000001.9:g.55297860T= NCBI36
NG_009061.1:g.25053T= , LRG_275:g.25053T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1617T= ENSP00000501161.2:p.Ala539=
ENST00000710286.1:c.1974T= ENSP00000518176.1:p.Ala658=
ENST00000673903.1:c.1242T= ENSP00000501257.1:p.Ala414=
ENST00000673913.1:c.357T= ENSP00000501161.1:p.Ala119=
ENST00000302118.5:c.1617T= MANE Select ENSP00000303208.5:p.Ala539=
ENST00000490692.1:n.2227+952T=
NM_174936.3:c.1617T= , LRG_275t1:c.1617T= NP_777596.2:p.Ala539=
NR_110451.1:n.1224T=
XM_011541193.1:c.738T= XP_011539495.1:p.Ala246=
NM_174936.4:c.1617T= MANE Select NP_777596.2:p.Ala539=
NR_110451.2:n.1224T=