Canonical Allele Identifier: CA1167986550
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063549C= , CM000663.2:g.55063549C= GRCh38
NC_000001.10:g.55529222C= , CM000663.1:g.55529222C= GRCh37
NC_000001.9:g.55301810C= NCBI36
NG_009061.1:g.29003C= , LRG_275:g.29003C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*384C= ENSP00000501161.2:n.*384C=
ENST00000710286.1:c.2401C= ENSP00000518176.1:p.Arg801=
ENST00000673903.1:c.1669C= ENSP00000501257.1:p.Arg557=
ENST00000302118.5:c.2044C= MANE Select ENSP00000303208.5:p.Arg682=
ENST00000490692.1:n.2590C=
NM_174936.3:c.2044C= , LRG_275t1:c.2044C= NP_777596.2:p.Arg682=
NR_110451.1:n.1651C=
XM_011541193.1:c.1165C= XP_011539495.1:p.Arg389=
NM_174936.4:c.2044C= MANE Select NP_777596.2:p.Arg682=
NR_110451.2:n.1651C=