Canonical Allele Identifier: CA10588858
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 265915
ClinVar RCV Id: RCV000256269 RCV000775015 RCV004535241 RCV003995748
dbSNP Id: rs886039837
gnomAD v2: 1-55505503-T-C
gnomAD v3: 1-55039830-T-C
gnomAD v4: 1-55039830-T-C
MyVariant Identifiers: chr1:g.55505503T>C (hg19) chr1:g.55039830T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039830T>C , CM000663.2:g.55039830T>C GRCh38
NC_000001.10:g.55505503T>C , CM000663.1:g.55505503T>C GRCh37
NC_000001.9:g.55278091T>C NCBI36
NG_009061.1:g.5284T>C , LRG_275:g.5284T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-8T>C ENSP00000501161.2:n.-8T>C
ENST00000710286.1:c.350T>C ENSP00000518176.1:p.Leu117Pro
ENST00000673726.1:c.-8T>C ENSP00000501004.1:n.-8T>C
ENST00000302118.5:c.-8T>C MANE Select ENSP00000303208.5:n.-8T>C
NM_174936.3:c.-8T>C , LRG_275t1:c.-8T>C NP_777596.2:n.-8T>C
NM_174936.4:c.-8T>C MANE Select NP_777596.2:n.-8T>C
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