Canonical Allele Identifier: CA22792102
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs11591147
gnomAD v4: 1-55039974-G-A
COSMIC: COSM6284844 COSM6284845
MyVariant Identifiers: chr1:g.55505647G>A (hg19) chr1:g.55039974G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039974G>A , CM000663.2:g.55039974G>A GRCh38
NC_000001.10:g.55505647G>A , CM000663.1:g.55505647G>A GRCh37
NC_000001.9:g.55278235G>A NCBI36
NG_009061.1:g.5428G>A , LRG_275:g.5428G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.137G>A ENSP00000501161.2:p.Arg46His
ENST00000710286.1:c.494G>A ENSP00000518176.1:p.Arg165His
ENST00000673726.1:c.137G>A ENSP00000501004.1:p.Arg46His
ENST00000302118.5:c.137G>A MANE Select ENSP00000303208.5:p.Arg46His
NM_174936.3:c.137G>A , LRG_275t1:c.137G>A NP_777596.2:p.Arg46His
NM_174936.4:c.137G>A MANE Select NP_777596.2:p.Arg46His
Search 100 bp 5'
Search 100 bp 3'