Canonical Allele Identifier: CA1145679974
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061478C= , CM000663.2:g.55061478C= GRCh38
NC_000001.10:g.55527151C= , CM000663.1:g.55527151C= GRCh37
NC_000001.9:g.55299739C= NCBI36
NG_009061.1:g.26932C= , LRG_275:g.26932C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*125C= ENSP00000501161.2:n.*125C=
ENST00000710286.1:c.2142C= ENSP00000518176.1:p.Ser714=
ENST00000673903.1:c.1410C= ENSP00000501257.1:p.Ser470=
ENST00000673913.1:c.635C= ENSP00000501161.1:n.635C=
ENST00000302118.5:c.1785C= MANE Select ENSP00000303208.5:p.Ser595=
ENST00000490692.1:n.2331C=
NM_174936.3:c.1785C= , LRG_275t1:c.1785C= NP_777596.2:p.Ser595=
NR_110451.1:n.1392C=
XM_011541193.1:c.906C= XP_011539495.1:p.Ser302=
NM_174936.4:c.1785C= MANE Select NP_777596.2:p.Ser595=
NR_110451.2:n.1392C=