Canonical Allele Identifier: CA22791800

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 922275
• ClinVar RCV Id: RCV001182227 ; RCV002483988 ; RCV002451377
• dbSNP Id: rs968023760
• gnomAD v2: 1-55505544-C-A
• gnomAD v3: 1-55039871-C-A
• gnomAD v4: 1-55039871-C-A
• MyVariant Identifiers: chr1:g.55505544C>A (hg19) ; chr1:g.55039871C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039871C>A , CM000663.2:g.55039871C>A	GRCh38
NC_000001.10:g.55505544C>A , CM000663.1:g.55505544C>A	GRCh37
NC_000001.9:g.55278132C>A	NCBI36
NG_009061.1:g.5325C>A , LRG_275:g.5325C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.34C>A	ENSP00000501161.2:p.Pro12Thr
ENST00000710286.1:c.391C>A	ENSP00000518176.1:p.Pro131Thr
ENST00000673726.1:c.34C>A	ENSP00000501004.1:p.Pro12Thr
ENST00000302118.5:c.34C>A MANE Select	ENSP00000303208.5:p.Pro12Thr
NM_174936.3:c.34C>A , LRG_275t1:c.34C>A	NP_777596.2:p.Pro12Thr
NM_174936.4:c.34C>A MANE Select	NP_777596.2:p.Pro12Thr