Canonical Allele Identifier: CA1167978165
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044028G= , CM000663.2:g.55044028G= GRCh38
NC_000001.10:g.55509701G= , CM000663.1:g.55509701G= GRCh37
NC_000001.9:g.55282289G= NCBI36
NG_009061.1:g.9482G= , LRG_275:g.9482G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.393G= ENSP00000501161.2:p.Leu131=
ENST00000710286.1:c.750G= ENSP00000518176.1:p.Leu250=
ENST00000673662.1:n.63G=
ENST00000673726.1:c.393G= ENSP00000501004.1:p.Leu131=
ENST00000673903.1:c.18G= ENSP00000501257.1:p.Leu6=
ENST00000302118.5:c.393G= MANE Select ENSP00000303208.5:p.Leu131=
NM_174936.3:c.393G= , LRG_275t1:c.393G= NP_777596.2:p.Leu131=
NR_110451.1:n.182+3625G=
NM_174936.4:c.393G= MANE Select NP_777596.2:p.Leu131=
NR_110451.2:n.182+3625G=