Canonical Allele Identifier: CA2645836469
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039680-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039680C>T , CM000663.2:g.55039680C>T GRCh38
NC_000001.10:g.55505353C>T , CM000663.1:g.55505353C>T GRCh37
NC_000001.9:g.55277941C>T NCBI36
NG_009061.1:g.5134C>T , LRG_275:g.5134C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-158C>T ENSP00000501161.2:n.-158C>T
ENST00000710286.1:c.200C>T ENSP00000518176.1:p.Ala67Val
ENST00000673726.1:c.-158C>T ENSP00000501004.1:n.-158C>T
ENST00000302118.5:c.-158C>T MANE Select ENSP00000303208.5:n.-158C>T
NM_174936.3:c.-158C>T , LRG_275t1:c.-158C>T NP_777596.2:n.-158C>T
NM_174936.4:c.-158C>T MANE Select NP_777596.2:n.-158C>T