Canonical Allele Identifier: CA039126
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 536204
ClinVar RCV Id: RCV000644537 RCV000771236 RCV001592794 RCV002406407 RCV003117450
dbSNP Id: rs140364657
ExAC: 1:55527217 C / T
gnomAD v2: 1-55527217-C-T
gnomAD v3: 1-55061544-C-T
gnomAD v4: 1-55061544-C-T
MyVariant Identifiers: chr1:g.55527217C>T (hg19) chr1:g.55061544C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55061544C>T , CM000663.2:g.55061544C>T GRCh38
NC_000001.10:g.55527217C>T , CM000663.1:g.55527217C>T GRCh37
NC_000001.9:g.55299805C>T NCBI36
NG_009061.1:g.26998C>T , LRG_275:g.26998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*191C>T ENSP00000501161.2:n.*191C>T
ENST00000710286.1:c.2208C>T ENSP00000518176.1:p.Ala736=
ENST00000673903.1:c.1476C>T ENSP00000501257.1:p.Ala492=
ENST00000673913.1:c.701C>T ENSP00000501161.1:n.701C>T
ENST00000302118.5:c.1851C>T MANE Select ENSP00000303208.5:p.Ala617=
ENST00000490692.1:n.2397C>T
NM_174936.3:c.1851C>T , LRG_275t1:c.1851C>T NP_777596.2:p.Ala617=
NR_110451.1:n.1458C>T
XM_011541193.1:c.972C>T XP_011539495.1:p.Ala324=
NM_174936.4:c.1851C>T MANE Select NP_777596.2:p.Ala617=
NR_110451.2:n.1458C>T
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