Canonical Allele Identifier: CA041613
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 924427
ClinVar RCV Id: RCV001185720 RCV004008555
dbSNP Id: rs767164134
ExAC: 1:55509683 G / C
gnomAD v2: 1-55509683-G-C
gnomAD v4: 1-55044010-G-C
MyVariant Identifiers: chr1:g.55509683G>C (hg19) chr1:g.55044010G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044010G>C , CM000663.2:g.55044010G>C GRCh38
NC_000001.10:g.55509683G>C , CM000663.1:g.55509683G>C GRCh37
NC_000001.9:g.55282271G>C NCBI36
NG_009061.1:g.9464G>C , LRG_275:g.9464G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.375G>C ENSP00000501161.2:p.Lys125Asn
ENST00000710286.1:c.732G>C ENSP00000518176.1:p.Lys244Asn
ENST00000673662.1:n.45G>C
ENST00000673726.1:c.375G>C ENSP00000501004.1:p.Lys125Asn
ENST00000673903.1:c.-1G>C ENSP00000501257.1:n.-1G>C
ENST00000302118.5:c.375G>C MANE Select ENSP00000303208.5:p.Lys125Asn
NM_174936.3:c.375G>C , LRG_275t1:c.375G>C NP_777596.2:p.Lys125Asn
NR_110451.1:n.182+3607G>C
NM_174936.4:c.375G>C MANE Select NP_777596.2:p.Lys125Asn
NR_110451.2:n.182+3607G>C
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