Canonical Allele Identifier: CA1167985735
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061546C= , CM000663.2:g.55061546C= GRCh38
NC_000001.10:g.55527219C= , CM000663.1:g.55527219C= GRCh37
NC_000001.9:g.55299807C= NCBI36
NG_009061.1:g.27000C= , LRG_275:g.27000C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*193C= ENSP00000501161.2:n.*193C=
ENST00000710286.1:c.2210C= ENSP00000518176.1:p.Pro737=
ENST00000673903.1:c.1478C= ENSP00000501257.1:p.Pro493=
ENST00000673913.1:c.703C= ENSP00000501161.1:n.703C=
ENST00000302118.5:c.1853C= MANE Select ENSP00000303208.5:p.Pro618=
ENST00000490692.1:n.2399C=
NM_174936.3:c.1853C= , LRG_275t1:c.1853C= NP_777596.2:p.Pro618=
NR_110451.1:n.1460C=
XM_011541193.1:c.974C= XP_011539495.1:p.Pro325=
NM_174936.4:c.1853C= MANE Select NP_777596.2:p.Pro618=
NR_110451.2:n.1460C=