Canonical Allele Identifier: CA1167978114
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55043897C= , CM000663.2:g.55043897C= GRCh38
NC_000001.10:g.55509570C= , CM000663.1:g.55509570C= GRCh37
NC_000001.9:g.55282158C= NCBI36
NG_009061.1:g.9351C= , LRG_275:g.9351C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.262C= ENSP00000501161.2:p.Leu88=
ENST00000710286.1:c.619C= ENSP00000518176.1:p.Leu207=
ENST00000673726.1:c.262C= ENSP00000501004.1:p.Leu88=
ENST00000673903.1:c.-114C= ENSP00000501257.1:n.-114C=
ENST00000302118.5:c.262C= MANE Select ENSP00000303208.5:p.Leu88=
NM_174936.3:c.262C= , LRG_275t1:c.262C= NP_777596.2:p.Leu88=
NR_110451.1:n.182+3494C=
NM_174936.4:c.262C= MANE Select NP_777596.2:p.Leu88=
NR_110451.2:n.182+3494C=