Canonical Allele Identifier: CA1167986486
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063400T= , CM000663.2:g.55063400T= GRCh38
NC_000001.10:g.55529073T= , CM000663.1:g.55529073T= GRCh37
NC_000001.9:g.55301661T= NCBI36
NG_009061.1:g.28854T= , LRG_275:g.28854T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*235T= ENSP00000501161.2:n.*235T=
ENST00000710286.1:c.2252T= ENSP00000518176.1:p.Leu751=
ENST00000673903.1:c.1520T= ENSP00000501257.1:p.Leu507=
ENST00000673913.1:c.745T= ENSP00000501161.1:n.745T=
ENST00000302118.5:c.1895T= MANE Select ENSP00000303208.5:p.Leu632=
ENST00000490692.1:n.2441T=
NM_174936.3:c.1895T= , LRG_275t1:c.1895T= NP_777596.2:p.Leu632=
NR_110451.1:n.1502T=
XM_011541193.1:c.1016T= XP_011539495.1:p.Leu339=
NM_174936.4:c.1895T= MANE Select NP_777596.2:p.Leu632=
NR_110451.2:n.1502T=