Canonical Allele Identifier: CA040345
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 492242
ClinVar RCV Id: RCV000584317 RCV000775303 RCV002420552
dbSNP Id: rs760981278
ExAC: 1:55529201 G / A
gnomAD v2: 1-55529201-G-A
gnomAD v3: 1-55063528-G-A
gnomAD v4: 1-55063528-G-A
MyVariant Identifiers: chr1:g.55529201G>A (hg19) chr1:g.55063528G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063528G>A , CM000663.2:g.55063528G>A GRCh38
NC_000001.10:g.55529201G>A , CM000663.1:g.55529201G>A GRCh37
NC_000001.9:g.55301789G>A NCBI36
NG_009061.1:g.28982G>A , LRG_275:g.28982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*363G>A ENSP00000501161.2:n.*363G>A
ENST00000710286.1:c.2380G>A ENSP00000518176.1:p.Val794Ile
ENST00000673903.1:c.1648G>A ENSP00000501257.1:p.Val550Ile
ENST00000673913.1:c.873G>A ENSP00000501161.1:n.873G>A
ENST00000302118.5:c.2023G>A MANE Select ENSP00000303208.5:p.Val675Ile
ENST00000490692.1:n.2569G>A
NM_174936.3:c.2023G>A , LRG_275t1:c.2023G>A NP_777596.2:p.Val675Ile
NR_110451.1:n.1630G>A
XM_011541193.1:c.1144G>A XP_011539495.1:p.Val382Ile
NM_174936.4:c.2023G>A MANE Select NP_777596.2:p.Val675Ile
NR_110451.2:n.1630G>A
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