Canonical Allele Identifier: CA1167985734
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061543C= , CM000663.2:g.55061543C= GRCh38
NC_000001.10:g.55527216C= , CM000663.1:g.55527216C= GRCh37
NC_000001.9:g.55299804C= NCBI36
NG_009061.1:g.26997C= , LRG_275:g.26997C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*190C= ENSP00000501161.2:n.*190C=
ENST00000710286.1:c.2207C= ENSP00000518176.1:p.Ala736=
ENST00000673903.1:c.1475C= ENSP00000501257.1:p.Ala492=
ENST00000673913.1:c.700C= ENSP00000501161.1:n.700C=
ENST00000302118.5:c.1850C= MANE Select ENSP00000303208.5:p.Ala617=
ENST00000490692.1:n.2396C=
NM_174936.3:c.1850C= , LRG_275t1:c.1850C= NP_777596.2:p.Ala617=
NR_110451.1:n.1457C=
XM_011541193.1:c.971C= XP_011539495.1:p.Ala324=
NM_174936.4:c.1850C= MANE Select NP_777596.2:p.Ala617=
NR_110451.2:n.1457C=