Canonical Allele Identifier: CA1167985709
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061480T= , CM000663.2:g.55061480T= GRCh38
NC_000001.10:g.55527153T= , CM000663.1:g.55527153T= GRCh37
NC_000001.9:g.55299741T= NCBI36
NG_009061.1:g.26934T= , LRG_275:g.26934T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*127T= ENSP00000501161.2:n.*127T=
ENST00000710286.1:c.2144T= ENSP00000518176.1:p.Ile715=
ENST00000673903.1:c.1412T= ENSP00000501257.1:p.Ile471=
ENST00000673913.1:c.637T= ENSP00000501161.1:n.637T=
ENST00000302118.5:c.1787T= MANE Select ENSP00000303208.5:p.Ile596=
ENST00000490692.1:n.2333T=
NM_174936.3:c.1787T= , LRG_275t1:c.1787T= NP_777596.2:p.Ile596=
NR_110451.1:n.1394T=
XM_011541193.1:c.908T= XP_011539495.1:p.Ile303=
NM_174936.4:c.1787T= MANE Select NP_777596.2:p.Ile596=
NR_110451.2:n.1394T=