Canonical Allele Identifier: CA036614
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 630138
ClinVar RCV Id: RCV000775256
dbSNP Id: rs747713772
ExAC: 1:55505646 C / T
gnomAD v2: 1-55505646-C-T
gnomAD v4: 1-55039973-C-T
MyVariant Identifiers: chr1:g.55505646C>T (hg19) chr1:g.55039973C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039973C>T , CM000663.2:g.55039973C>T GRCh38
NC_000001.10:g.55505646C>T , CM000663.1:g.55505646C>T GRCh37
NC_000001.9:g.55278234C>T NCBI36
NG_009061.1:g.5427C>T , LRG_275:g.5427C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.136C>T ENSP00000501161.2:p.Arg46Cys
ENST00000710286.1:c.493C>T ENSP00000518176.1:p.Arg165Cys
ENST00000673726.1:c.136C>T ENSP00000501004.1:p.Arg46Cys
ENST00000302118.5:c.136C>T MANE Select ENSP00000303208.5:p.Arg46Cys
NM_174936.3:c.136C>T , LRG_275t1:c.136C>T NP_777596.2:p.Arg46Cys
NM_174936.4:c.136C>T MANE Select NP_777596.2:p.Arg46Cys
Search 100 bp 5'
Search 100 bp 3'