Canonical Allele Identifier: CA1167985722
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061509C= , CM000663.2:g.55061509C= GRCh38
NC_000001.10:g.55527182C= , CM000663.1:g.55527182C= GRCh37
NC_000001.9:g.55299770C= NCBI36
NG_009061.1:g.26963C= , LRG_275:g.26963C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*156C= ENSP00000501161.2:n.*156C=
ENST00000710286.1:c.2173C= ENSP00000518176.1:p.Leu725=
ENST00000673903.1:c.1441C= ENSP00000501257.1:p.Leu481=
ENST00000673913.1:c.666C= ENSP00000501161.1:n.666C=
ENST00000302118.5:c.1816C= MANE Select ENSP00000303208.5:p.Leu606=
ENST00000490692.1:n.2362C=
NM_174936.3:c.1816C= , LRG_275t1:c.1816C= NP_777596.2:p.Leu606=
NR_110451.1:n.1423C=
XM_011541193.1:c.937C= XP_011539495.1:p.Leu313=
NM_174936.4:c.1816C= MANE Select NP_777596.2:p.Leu606=
NR_110451.2:n.1423C=