Canonical Allele Identifier: CA1167986494
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063417C= , CM000663.2:g.55063417C= GRCh38
NC_000001.10:g.55529090C= , CM000663.1:g.55529090C= GRCh37
NC_000001.9:g.55301678C= NCBI36
NG_009061.1:g.28871C= , LRG_275:g.28871C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*252C= ENSP00000501161.2:n.*252C=
ENST00000710286.1:c.2269C= ENSP00000518176.1:p.Leu757=
ENST00000673903.1:c.1537C= ENSP00000501257.1:p.Leu513=
ENST00000673913.1:c.762C= ENSP00000501161.1:n.762C=
ENST00000302118.5:c.1912C= MANE Select ENSP00000303208.5:p.Leu638=
ENST00000490692.1:n.2458C=
NM_174936.3:c.1912C= , LRG_275t1:c.1912C= NP_777596.2:p.Leu638=
NR_110451.1:n.1519C=
XM_011541193.1:c.1033C= XP_011539495.1:p.Leu345=
NM_174936.4:c.1912C= MANE Select NP_777596.2:p.Leu638=
NR_110451.2:n.1519C=