Canonical Allele Identifier: CA340483857
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55044017-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044017G>T , CM000663.2:g.55044017G>T GRCh38
NC_000001.10:g.55509690G>T , CM000663.1:g.55509690G>T GRCh37
NC_000001.9:g.55282278G>T NCBI36
NG_009061.1:g.9471G>T , LRG_275:g.9471G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.382G>T ENSP00000501161.2:p.Gly128Cys
ENST00000710286.1:c.739G>T ENSP00000518176.1:p.Gly247Cys
ENST00000673662.1:n.52G>T
ENST00000673726.1:c.382G>T ENSP00000501004.1:p.Gly128Cys
ENST00000673903.1:c.7G>T ENSP00000501257.1:p.Gly3Cys
ENST00000302118.5:c.382G>T MANE Select ENSP00000303208.5:p.Gly128Cys
NM_174936.3:c.382G>T , LRG_275t1:c.382G>T NP_777596.2:p.Gly128Cys
NR_110451.1:n.182+3614G>T
NM_174936.4:c.382G>T MANE Select NP_777596.2:p.Gly128Cys
NR_110451.2:n.182+3614G>T