Canonical Allele Identifier: CA1167986508
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063452C= , CM000663.2:g.55063452C= GRCh38
NC_000001.10:g.55529125C= , CM000663.1:g.55529125C= GRCh37
NC_000001.9:g.55301713C= NCBI36
NG_009061.1:g.28906C= , LRG_275:g.28906C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*287C= ENSP00000501161.2:n.*287C=
ENST00000710286.1:c.2304C= ENSP00000518176.1:p.Ala768=
ENST00000673903.1:c.1572C= ENSP00000501257.1:p.Ala524=
ENST00000673913.1:c.797C= ENSP00000501161.1:n.797C=
ENST00000302118.5:c.1947C= MANE Select ENSP00000303208.5:p.Ala649=
ENST00000490692.1:n.2493C=
NM_174936.3:c.1947C= , LRG_275t1:c.1947C= NP_777596.2:p.Ala649=
NR_110451.1:n.1554C=
XM_011541193.1:c.1068C= XP_011539495.1:p.Ala356=
NM_174936.4:c.1947C= MANE Select NP_777596.2:p.Ala649=
NR_110451.2:n.1554C=