Canonical Allele Identifier: CA1148113858
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061474C= , CM000663.2:g.55061474C= GRCh38
NC_000001.10:g.55527147C= , CM000663.1:g.55527147C= GRCh37
NC_000001.9:g.55299735C= NCBI36
NG_009061.1:g.26928C= , LRG_275:g.26928C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*121C= ENSP00000501161.2:n.*121C=
ENST00000710286.1:c.2138C= ENSP00000518176.1:p.Ala713=
ENST00000673903.1:c.1406C= ENSP00000501257.1:p.Ala469=
ENST00000673913.1:c.631C= ENSP00000501161.1:n.631C=
ENST00000302118.5:c.1781C= MANE Select ENSP00000303208.5:p.Ala594=
ENST00000490692.1:n.2327C=
NM_174936.3:c.1781C= , LRG_275t1:c.1781C= NP_777596.2:p.Ala594=
NR_110451.1:n.1388C=
XM_011541193.1:c.902C= XP_011539495.1:p.Ala301=
NM_174936.4:c.1781C= MANE Select NP_777596.2:p.Ala594=
NR_110451.2:n.1388C=