Canonical Allele Identifier: CA038270
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 431558
ClinVar RCV Id: RCV000860913 RCV000497107 RCV001080081 RCV001099463 RCV001176520 RCV002395199
dbSNP Id: rs149311926
ExAC: 1:55525315 C / G
gnomAD v2: 1-55525315-C-G
gnomAD v3: 1-55059642-C-G
gnomAD v4: 1-55059642-C-G
MyVariant Identifiers: chr1:g.55525315C>G (hg19) chr1:g.55059642C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059642C>G , CM000663.2:g.55059642C>G GRCh38
NC_000001.10:g.55525315C>G , CM000663.1:g.55525315C>G GRCh37
NC_000001.9:g.55297903C>G NCBI36
NG_009061.1:g.25096C>G , LRG_275:g.25096C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1660C>G ENSP00000501161.2:p.Gln554Glu
ENST00000710286.1:c.2017C>G ENSP00000518176.1:p.Gln673Glu
ENST00000673903.1:c.1285C>G ENSP00000501257.1:p.Gln429Glu
ENST00000673913.1:c.400C>G ENSP00000501161.1:p.Gln134Glu
ENST00000302118.5:c.1660C>G MANE Select ENSP00000303208.5:p.Gln554Glu
ENST00000490692.1:n.2227+995C>G
NM_174936.3:c.1660C>G , LRG_275t1:c.1660C>G NP_777596.2:p.Gln554Glu
NR_110451.1:n.1267C>G
XM_011541193.1:c.781C>G XP_011539495.1:p.Gln261Glu
NM_174936.4:c.1660C>G MANE Select NP_777596.2:p.Gln554Glu
NR_110451.2:n.1267C>G
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