Canonical Allele Identifier: CA340483883
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs758580558
gnomAD v4: 1-55044031-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044031G>C , CM000663.2:g.55044031G>C GRCh38
NC_000001.10:g.55509704G>C , CM000663.1:g.55509704G>C GRCh37
NC_000001.9:g.55282292G>C NCBI36
NG_009061.1:g.9485G>C , LRG_275:g.9485G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.396G>C ENSP00000501161.2:p.Glu132Asp
ENST00000710286.1:c.753G>C ENSP00000518176.1:p.Glu251Asp
ENST00000673662.1:n.66G>C
ENST00000673726.1:c.396G>C ENSP00000501004.1:p.Glu132Asp
ENST00000673903.1:c.21G>C ENSP00000501257.1:p.Glu7Asp
ENST00000302118.5:c.396G>C MANE Select ENSP00000303208.5:p.Glu132Asp
NM_174936.3:c.396G>C , LRG_275t1:c.396G>C NP_777596.2:p.Glu132Asp
NR_110451.1:n.182+3628G>C
NM_174936.4:c.396G>C MANE Select NP_777596.2:p.Glu132Asp
NR_110451.2:n.182+3628G>C