Canonical Allele Identifier: CA1141846785
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061548C= , CM000663.2:g.55061548C= GRCh38
NC_000001.10:g.55527221C= , CM000663.1:g.55527221C= GRCh37
NC_000001.9:g.55299809C= NCBI36
NG_009061.1:g.27002C= , LRG_275:g.27002C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*195C= ENSP00000501161.2:n.*195C=
ENST00000710286.1:c.2212C= ENSP00000518176.1:p.Gln738=
ENST00000673903.1:c.1480C= ENSP00000501257.1:p.Gln494=
ENST00000673913.1:c.705C= ENSP00000501161.1:n.705C=
ENST00000302118.5:c.1855C= MANE Select ENSP00000303208.5:p.Gln619=
ENST00000490692.1:n.2401C=
NM_174936.3:c.1855C= , LRG_275t1:c.1855C= NP_777596.2:p.Gln619=
NR_110451.1:n.1462C=
XM_011541193.1:c.976C= XP_011539495.1:p.Gln326=
NM_174936.4:c.1855C= MANE Select NP_777596.2:p.Gln619=
NR_110451.2:n.1462C=