Canonical Allele Identifier: CA1149152174
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061536A= , CM000663.2:g.55061536A= GRCh38
NC_000001.10:g.55527209A= , CM000663.1:g.55527209A= GRCh37
NC_000001.9:g.55299797A= NCBI36
NG_009061.1:g.26990A= , LRG_275:g.26990A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*183A= ENSP00000501161.2:n.*183A=
ENST00000710286.1:c.2200A= ENSP00000518176.1:p.Ile734=
ENST00000673903.1:c.1468A= ENSP00000501257.1:p.Ile490=
ENST00000673913.1:c.693A= ENSP00000501161.1:n.693A=
ENST00000302118.5:c.1843A= MANE Select ENSP00000303208.5:p.Ile615=
ENST00000490692.1:n.2389A=
NM_174936.3:c.1843A= , LRG_275t1:c.1843A= NP_777596.2:p.Ile615=
NR_110451.1:n.1450A=
XM_011541193.1:c.964A= XP_011539495.1:p.Ile322=
NM_174936.4:c.1843A= MANE Select NP_777596.2:p.Ile615=
NR_110451.2:n.1450A=