Canonical Allele Identifier: CA041734
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 375844
dbSNP Id: rs778738291
gnomAD v2: 1-55509693-G-A
gnomAD v3: 1-55044020-G-A
gnomAD v4: 1-55044020-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044020G>A , CM000663.2:g.55044020G>A GRCh38
NC_000001.10:g.55509693G>A , CM000663.1:g.55509693G>A GRCh37
NC_000001.9:g.55282281G>A NCBI36
NG_009061.1:g.9474G>A , LRG_275:g.9474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.385G>A ENSP00000501161.2:p.Asp129Asn
ENST00000710286.1:c.742G>A ENSP00000518176.1:p.Asp248Asn
ENST00000673662.1:n.55G>A
ENST00000673726.1:c.385G>A ENSP00000501004.1:p.Asp129Asn
ENST00000673903.1:c.10G>A ENSP00000501257.1:p.Asp4Asn
ENST00000302118.5:c.385G>A MANE Select ENSP00000303208.5:p.Asp129Asn
NM_174936.3:c.385G>A , LRG_275t1:c.385G>A NP_777596.2:p.Asp129Asn
NR_110451.1:n.182+3617G>A
NM_174936.4:c.385G>A MANE Select NP_777596.2:p.Asp129Asn
NR_110451.2:n.182+3617G>A