Canonical Allele Identifier: CA22765607
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 928568
ClinVar RCV Id: RCV001192678 RCV001236337 RCV001284672
dbSNP Id: rs1026987232
gnomAD v2: 1-55525285-G-A
gnomAD v3: 1-55059612-G-A
gnomAD v4: 1-55059612-G-A
MyVariant Identifiers: chr1:g.55525285G>A (hg19) chr1:g.55059612G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55059612G>A , CM000663.2:g.55059612G>A GRCh38
NC_000001.10:g.55525285G>A , CM000663.1:g.55525285G>A GRCh37
NC_000001.9:g.55297873G>A NCBI36
NG_009061.1:g.25066G>A , LRG_275:g.25066G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.1630G>A ENSP00000501161.2:p.Ala544Thr
ENST00000710286.1:c.1987G>A ENSP00000518176.1:p.Ala663Thr
ENST00000673903.1:c.1255G>A ENSP00000501257.1:p.Ala419Thr
ENST00000673913.1:c.370G>A ENSP00000501161.1:p.Ala124Thr
ENST00000302118.5:c.1630G>A MANE Select ENSP00000303208.5:p.Ala544Thr
ENST00000490692.1:n.2227+965G>A
NM_174936.3:c.1630G>A , LRG_275t1:c.1630G>A NP_777596.2:p.Ala544Thr
NR_110451.1:n.1237G>A
XM_011541193.1:c.751G>A XP_011539495.1:p.Ala251Thr
NM_174936.4:c.1630G>A MANE Select NP_777596.2:p.Ala544Thr
NR_110451.2:n.1237G>A
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