Canonical Allele Identifier: CA041734

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 375844
• ClinVar RCV Id: RCV000417258 ; RCV000497232 ; RCV001185722 ; RCV002222502 ; RCV002356513
• dbSNP Id: rs778738291
• ExAC: 1:55509693 G / A
• gnomAD v2: 1-55509693-G-A
• gnomAD v3: 1-55044020-G-A
• gnomAD v4: 1-55044020-G-A
• MyVariant Identifiers: chr1:g.55509693G>A (hg19) ; chr1:g.55044020G>A (hg38)
• PubMed: PMID:19081568 ; PMID:23064986

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