Canonical Allele Identifier: CA22791581
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs917249802
gnomAD v2: 1-55505399-A-G
gnomAD v3: 1-55039726-A-G
gnomAD v4: 1-55039726-A-G
MyVariant Identifiers: chr1:g.55505399A>G (hg19) chr1:g.55039726A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039726A>G , CM000663.2:g.55039726A>G GRCh38
NC_000001.10:g.55505399A>G , CM000663.1:g.55505399A>G GRCh37
NC_000001.9:g.55277987A>G NCBI36
NG_009061.1:g.5180A>G , LRG_275:g.5180A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-112A>G ENSP00000501161.2:n.-112A>G
ENST00000710286.1:c.246A>G ENSP00000518176.1:p.Glu82=
ENST00000673726.1:c.-112A>G ENSP00000501004.1:n.-112A>G
ENST00000302118.5:c.-112A>G MANE Select ENSP00000303208.5:n.-112A>G
NM_174936.3:c.-112A>G , LRG_275t1:c.-112A>G NP_777596.2:n.-112A>G
NM_174936.4:c.-112A>G MANE Select NP_777596.2:n.-112A>G
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