Canonical Allele Identifier: CA340482727

Gene: PCSK9

Linked Data

• ClinVar Variation Id: 923225
• ClinVar RCV Id: RCV001183762 ; RCV002411693 ; RCV004008408
• dbSNP Id: rs1413443246
• gnomAD v2: 1-55505587-C-T
• gnomAD v3: 1-55039914-C-T
• gnomAD v4: 1-55039914-C-T
• COSMIC: COSM6377367 ; COSM6377368
• MyVariant Identifiers: chr1:g.55505587C>T (hg19) ; chr1:g.55039914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039914C>T , CM000663.2:g.55039914C>T	GRCh38
NC_000001.10:g.55505587C>T , CM000663.1:g.55505587C>T	GRCh37
NC_000001.9:g.55278175C>T	NCBI36
NG_009061.1:g.5368C>T , LRG_275:g.5368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.77C>T	ENSP00000501161.2:p.Ala26Val
ENST00000710286.1:c.434C>T	ENSP00000518176.1:p.Ala145Val
ENST00000673726.1:c.77C>T	ENSP00000501004.1:p.Ala26Val
ENST00000302118.5:c.77C>T MANE Select	ENSP00000303208.5:p.Ala26Val
NM_174936.3:c.77C>T , LRG_275t1:c.77C>T	NP_777596.2:p.Ala26Val
NM_174936.4:c.77C>T MANE Select	NP_777596.2:p.Ala26Val