Canonical Allele Identifier: CA041714
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 630144
ClinVar RCV Id: RCV000862134 RCV001815478 RCV000775262 RCV002360887
dbSNP Id: rs72646503
ExAC: 1:55509692 C / T
gnomAD v2: 1-55509692-C-T
gnomAD v3: 1-55044019-C-T
gnomAD v4: 1-55044019-C-T
COSMIC: COSM2194309 COSM4239812
MyVariant Identifiers: chr1:g.55509692C>T (hg19) chr1:g.55044019C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044019C>T , CM000663.2:g.55044019C>T GRCh38
NC_000001.10:g.55509692C>T , CM000663.1:g.55509692C>T GRCh37
NC_000001.9:g.55282280C>T NCBI36
NG_009061.1:g.9473C>T , LRG_275:g.9473C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.384C>T ENSP00000501161.2:p.Gly128=
ENST00000710286.1:c.741C>T ENSP00000518176.1:p.Gly247=
ENST00000673662.1:n.54C>T
ENST00000673726.1:c.384C>T ENSP00000501004.1:p.Gly128=
ENST00000673903.1:c.9C>T ENSP00000501257.1:p.Gly3=
ENST00000302118.5:c.384C>T MANE Select ENSP00000303208.5:p.Gly128=
NM_174936.3:c.384C>T , LRG_275t1:c.384C>T NP_777596.2:p.Gly128=
NR_110451.1:n.182+3616C>T
NM_174936.4:c.384C>T MANE Select NP_777596.2:p.Gly128=
NR_110451.2:n.182+3616C>T
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