Canonical Allele Identifier: CA340482727
Gene: PCSK9 HGNC NCBI

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)
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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
Search 100 bp 5'
Search 100 bp 3'