Canonical Allele Identifier: CA1167984932
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059622G= , CM000663.2:g.55059622G= GRCh38
NC_000001.10:g.55525295G= , CM000663.1:g.55525295G= GRCh37
NC_000001.9:g.55297883G= NCBI36
NG_009061.1:g.25076G= , LRG_275:g.25076G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1640G= ENSP00000501161.2:p.Gly547=
ENST00000710286.1:c.1997G= ENSP00000518176.1:p.Gly666=
ENST00000673903.1:c.1265G= ENSP00000501257.1:p.Gly422=
ENST00000673913.1:c.380G= ENSP00000501161.1:p.Gly127=
ENST00000302118.5:c.1640G= MANE Select ENSP00000303208.5:p.Gly547=
ENST00000490692.1:n.2227+975G=
NM_174936.3:c.1640G= , LRG_275t1:c.1640G= NP_777596.2:p.Gly547=
NR_110451.1:n.1247G=
XM_011541193.1:c.761G= XP_011539495.1:p.Gly254=
NM_174936.4:c.1640G= MANE Select NP_777596.2:p.Gly547=
NR_110451.2:n.1247G=