Canonical Allele Identifier: CA037217

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 438338
• ClinVar RCV Id: RCV000505200 ; RCV000525584 ; RCV000780579 ; RCV001176519 ; RCV001564604 ; RCV002395216
• dbSNP Id: rs139669564
• ExAC: 1:55524304 G / A
• gnomAD v2: 1-55524304-G-A
• gnomAD v3: 1-55058631-G-A
• gnomAD v4: 1-55058631-G-A
• MyVariant Identifiers: chr1:g.55524304G>A (hg19) ; chr1:g.55058631G>A (hg38)
• PubMed: PMID:16571601

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55058631G>A , CM000663.2:g.55058631G>A	GRCh38
NC_000001.10:g.55524304G>A , CM000663.1:g.55524304G>A	GRCh37
NC_000001.9:g.55296892G>A	NCBI36
NG_009061.1:g.24085G>A , LRG_275:g.24085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.1487G>A	ENSP00000501161.2:p.Arg496Gln
ENST00000710286.1:c.1844G>A	ENSP00000518176.1:p.Arg615Gln
ENST00000673903.1:c.1112G>A	ENSP00000501257.1:p.Arg371Gln
ENST00000673913.1:c.227G>A	ENSP00000501161.1:p.Arg76Gln
ENST00000302118.5:c.1487G>A MANE Select	ENSP00000303208.5:p.Arg496Gln
ENST00000490692.1:n.2211G>A
NM_174936.3:c.1487G>A , LRG_275t1:c.1487G>A	NP_777596.2:p.Arg496Gln
NR_110451.1:n.1094G>A
XM_011541193.1:c.608G>A	XP_011539495.1:p.Arg203Gln
NM_174936.4:c.1487G>A MANE Select	NP_777596.2:p.Arg496Gln
NR_110451.2:n.1094G>A