Canonical Allele Identifier: CA2645836037
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039547-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039547C>T , CM000663.2:g.55039547C>T GRCh38
NC_000001.10:g.55505220C>T , CM000663.1:g.55505220C>T GRCh37
NC_000001.9:g.55277808C>T NCBI36
NG_009061.1:g.5001C>T , LRG_275:g.5001C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-291C>T ENSP00000501161.2:n.-291C>T
ENST00000710286.1:c.67C>T ENSP00000518176.1:p.Gln23Ter
ENST00000673726.1:c.-291C>T ENSP00000501004.1:n.-291C>T
NM_174936.3:c.-291C>T , LRG_275t1:c.-291C>T NP_777596.2:n.-291C>T