Canonical Allele Identifier: CA039476
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 924580
ClinVar RCV Id: RCV001185962 RCV004008570
dbSNP Id: rs769112641
ExAC: 1:55529045 A / G
gnomAD v2: 1-55529045-A-G
gnomAD v4: 1-55063372-A-G
MyVariant Identifiers: chr1:g.55529045A>G (hg19) chr1:g.55063372A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063372A>G , CM000663.2:g.55063372A>G GRCh38
NC_000001.10:g.55529045A>G , CM000663.1:g.55529045A>G GRCh37
NC_000001.9:g.55301633A>G NCBI36
NG_009061.1:g.28826A>G , LRG_275:g.28826A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*207A>G ENSP00000501161.2:n.*207A>G
ENST00000710286.1:c.2224A>G ENSP00000518176.1:p.Thr742Ala
ENST00000673903.1:c.1492A>G ENSP00000501257.1:p.Thr498Ala
ENST00000673913.1:c.717A>G ENSP00000501161.1:n.717A>G
ENST00000302118.5:c.1867A>G MANE Select ENSP00000303208.5:p.Thr623Ala
ENST00000490692.1:n.2413A>G
NM_174936.3:c.1867A>G , LRG_275t1:c.1867A>G NP_777596.2:p.Thr623Ala
NR_110451.1:n.1474A>G
XM_011541193.1:c.988A>G XP_011539495.1:p.Thr330Ala
NM_174936.4:c.1867A>G MANE Select NP_777596.2:p.Thr623Ala
NR_110451.2:n.1474A>G
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