Canonical Allele Identifier: CA039569
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1781846
ClinVar RCV Id: RCV002415263 RCV003500779
dbSNP Id: rs774385716
ExAC: 1:55529057 G / A
gnomAD v2: 1-55529057-G-A
gnomAD v3: 1-55063384-G-A
gnomAD v4: 1-55063384-G-A
MyVariant Identifiers: chr1:g.55529057G>A (hg19) chr1:g.55063384G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063384G>A , CM000663.2:g.55063384G>A GRCh38
NC_000001.10:g.55529057G>A , CM000663.1:g.55529057G>A GRCh37
NC_000001.9:g.55301645G>A NCBI36
NG_009061.1:g.28838G>A , LRG_275:g.28838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*219G>A ENSP00000501161.2:n.*219G>A
ENST00000710286.1:c.2236G>A ENSP00000518176.1:p.Glu746Lys
ENST00000673903.1:c.1504G>A ENSP00000501257.1:p.Glu502Lys
ENST00000673913.1:c.729G>A ENSP00000501161.1:n.729G>A
ENST00000302118.5:c.1879G>A MANE Select ENSP00000303208.5:p.Glu627Lys
ENST00000490692.1:n.2425G>A
NM_174936.3:c.1879G>A , LRG_275t1:c.1879G>A NP_777596.2:p.Glu627Lys
NR_110451.1:n.1486G>A
XM_011541193.1:c.1000G>A XP_011539495.1:p.Glu334Lys
NM_174936.4:c.1879G>A MANE Select NP_777596.2:p.Glu627Lys
NR_110451.2:n.1486G>A
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