Canonical Allele Identifier: CA040499
Gene: PCSK9 HGNC NCBI

Linked Data

ClinVar Variation Id: 630175
ClinVar RCV Id: RCV000775306 RCV001232731 RCV002422659
dbSNP Id: rs201557607
ExAC: 1:55529228 C / G
gnomAD v2: 1-55529228-C-G
gnomAD v3: 1-55063555-C-G
gnomAD v4: 1-55063555-C-G
MyVariant Identifiers: chr1:g.55529228C>G (hg19) chr1:g.55063555C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55063555C>G , CM000663.2:g.55063555C>G GRCh38
NC_000001.10:g.55529228C>G , CM000663.1:g.55529228C>G GRCh37
NC_000001.9:g.55301816C>G NCBI36
NG_009061.1:g.29009C>G , LRG_275:g.29009C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.*390C>G ENSP00000501161.2:n.*390C>G
ENST00000710286.1:c.2407C>G ENSP00000518176.1:p.Leu803Val
ENST00000673903.1:c.1675C>G ENSP00000501257.1:p.Leu559Val
ENST00000302118.5:c.2050C>G MANE Select ENSP00000303208.5:p.Leu684Val
ENST00000490692.1:n.2596C>G
NM_174936.3:c.2050C>G , LRG_275t1:c.2050C>G NP_777596.2:p.Leu684Val
NR_110451.1:n.1657C>G
XM_011541193.1:c.1171C>G XP_011539495.1:p.Leu391Val
NM_174936.4:c.2050C>G MANE Select NP_777596.2:p.Leu684Val
NR_110451.2:n.1657C>G
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