Canonical Allele Identifier: CA340482794
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039947-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039947A>G , CM000663.2:g.55039947A>G GRCh38
NC_000001.10:g.55505620A>G , CM000663.1:g.55505620A>G GRCh37
NC_000001.9:g.55278208A>G NCBI36
NG_009061.1:g.5401A>G , LRG_275:g.5401A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.110A>G ENSP00000501161.2:p.Asp37Gly
ENST00000710286.1:c.467A>G ENSP00000518176.1:p.Asp156Gly
ENST00000673726.1:c.110A>G ENSP00000501004.1:p.Asp37Gly
ENST00000302118.5:c.110A>G MANE Select ENSP00000303208.5:p.Asp37Gly
NM_174936.3:c.110A>G , LRG_275t1:c.110A>G NP_777596.2:p.Asp37Gly
NM_174936.4:c.110A>G MANE Select NP_777596.2:p.Asp37Gly