Canonical Allele Identifier: CA1167978159
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044021A= , CM000663.2:g.55044021A= GRCh38
NC_000001.10:g.55509694A= , CM000663.1:g.55509694A= GRCh37
NC_000001.9:g.55282282A= NCBI36
NG_009061.1:g.9475A= , LRG_275:g.9475A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.386A= ENSP00000501161.2:p.Asp129=
ENST00000710286.1:c.743A= ENSP00000518176.1:p.Asp248=
ENST00000673662.1:n.56A=
ENST00000673726.1:c.386A= ENSP00000501004.1:p.Asp129=
ENST00000673903.1:c.11A= ENSP00000501257.1:p.Asp4=
ENST00000302118.5:c.386A= MANE Select ENSP00000303208.5:p.Asp129=
NM_174936.3:c.386A= , LRG_275t1:c.386A= NP_777596.2:p.Asp129=
NR_110451.1:n.182+3618A=
NM_174936.4:c.386A= MANE Select NP_777596.2:p.Asp129=
NR_110451.2:n.182+3618A=