Canonical Allele Identifier: CA1167978171
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044036T= , CM000663.2:g.55044036T= GRCh38
NC_000001.10:g.55509709T= , CM000663.1:g.55509709T= GRCh37
NC_000001.9:g.55282297T= NCBI36
NG_009061.1:g.9490T= , LRG_275:g.9490T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.399+2T= ENSP00000501161.2:n.399+2T=
ENST00000710286.1:c.756+2T= ENSP00000518176.1:n.756+2T=
ENST00000673662.1:n.69+2T=
ENST00000673726.1:c.399+2T= ENSP00000501004.1:n.399+2T=
ENST00000673903.1:c.24+2T= ENSP00000501257.1:n.24+2T=
ENST00000302118.5:c.399+2T= MANE Select ENSP00000303208.5:n.399+2T=
NM_174936.3:c.399+2T= , LRG_275t1:c.399+2T= NP_777596.2:n.399+2T=
NR_110451.1:n.182+3633T=
NM_174936.4:c.399+2T= MANE Select NP_777596.2:n.399+2T=
NR_110451.2:n.182+3633T=