Canonical Allele Identifier: CA340480886
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072122
ClinVar RCV Id: RCV004012152
dbSNP Id: rs1346795665
gnomAD v2: 1-55529217-G-A
gnomAD v4: 1-55063544-G-A
MyVariant Identifiers: chr1:g.55529217G>A (hg19) chr1:g.55063544G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063544G>A , CM000663.2:g.55063544G>A GRCh38
NC_000001.10:g.55529217G>A , CM000663.1:g.55529217G>A GRCh37
NC_000001.9:g.55301805G>A NCBI36
NG_009061.1:g.28998G>A , LRG_275:g.28998G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*379G>A ENSP00000501161.2:n.*379G>A
ENST00000710286.1:c.2396G>A ENSP00000518176.1:p.Arg799Gln
ENST00000673903.1:c.1664G>A ENSP00000501257.1:p.Arg555Gln
ENST00000302118.5:c.2039G>A MANE Select ENSP00000303208.5:p.Arg680Gln
ENST00000490692.1:n.2585G>A
NM_174936.3:c.2039G>A , LRG_275t1:c.2039G>A NP_777596.2:p.Arg680Gln
NR_110451.1:n.1646G>A
XM_011541193.1:c.1160G>A XP_011539495.1:p.Arg387Gln
NM_174936.4:c.2039G>A MANE Select NP_777596.2:p.Arg680Gln
NR_110451.2:n.1646G>A
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