Canonical Allele Identifier: CA2645836097
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039560-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039560G>T , CM000663.2:g.55039560G>T GRCh38
NC_000001.10:g.55505233G>T , CM000663.1:g.55505233G>T GRCh37
NC_000001.9:g.55277821G>T NCBI36
NG_009061.1:g.5014G>T , LRG_275:g.5014G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-278G>T ENSP00000501161.2:n.-278G>T
ENST00000710286.1:c.80G>T ENSP00000518176.1:p.Gly27Val
ENST00000673726.1:c.-278G>T ENSP00000501004.1:n.-278G>T
ENST00000302118.5:c.-278G>T MANE Select ENSP00000303208.5:n.-278G>T
NM_174936.3:c.-278G>T , LRG_275t1:c.-278G>T NP_777596.2:n.-278G>T
NM_174936.4:c.-278G>T MANE Select NP_777596.2:n.-278G>T