Canonical Allele Identifier: CA340483254
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55040042-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55040042A>G , CM000663.2:g.55040042A>G GRCh38
NC_000001.10:g.55505715A>G , CM000663.1:g.55505715A>G GRCh37
NC_000001.9:g.55278303A>G NCBI36
NG_009061.1:g.5496A>G , LRG_275:g.5496A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.205A>G ENSP00000501161.2:p.Lys69Glu
ENST00000710286.1:c.562A>G ENSP00000518176.1:p.Lys188Glu
ENST00000673726.1:c.205A>G ENSP00000501004.1:p.Lys69Glu
ENST00000302118.5:c.205A>G MANE Select ENSP00000303208.5:p.Lys69Glu
NM_174936.3:c.205A>G , LRG_275t1:c.205A>G NP_777596.2:p.Lys69Glu
NM_174936.4:c.205A>G MANE Select NP_777596.2:p.Lys69Glu