Canonical Allele Identifier: CA1167985717
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061501C= , CM000663.2:g.55061501C= GRCh38
NC_000001.10:g.55527174C= , CM000663.1:g.55527174C= GRCh37
NC_000001.9:g.55299762C= NCBI36
NG_009061.1:g.26955C= , LRG_275:g.26955C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*148C= ENSP00000501161.2:n.*148C=
ENST00000710286.1:c.2165C= ENSP00000518176.1:p.Ala722=
ENST00000673903.1:c.1433C= ENSP00000501257.1:p.Ala478=
ENST00000673913.1:c.658C= ENSP00000501161.1:n.658C=
ENST00000302118.5:c.1808C= MANE Select ENSP00000303208.5:p.Ala603=
ENST00000490692.1:n.2354C=
NM_174936.3:c.1808C= , LRG_275t1:c.1808C= NP_777596.2:p.Ala603=
NR_110451.1:n.1415C=
XM_011541193.1:c.929C= XP_011539495.1:p.Ala310=
NM_174936.4:c.1808C= MANE Select NP_777596.2:p.Ala603=
NR_110451.2:n.1415C=