Canonical Allele Identifier: CA340482866
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039983-A-G
MyVariant Identifiers: chr1:g.55505656A>G (hg19) chr1:g.55039983A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039983A>G , CM000663.2:g.55039983A>G GRCh38
NC_000001.10:g.55505656A>G , CM000663.1:g.55505656A>G GRCh37
NC_000001.9:g.55278244A>G NCBI36
NG_009061.1:g.5437A>G , LRG_275:g.5437A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.146A>G ENSP00000501161.2:p.Glu49Gly
ENST00000710286.1:c.503A>G ENSP00000518176.1:p.Glu168Gly
ENST00000673726.1:c.146A>G ENSP00000501004.1:p.Glu49Gly
ENST00000302118.5:c.146A>G MANE Select ENSP00000303208.5:p.Glu49Gly
NM_174936.3:c.146A>G , LRG_275t1:c.146A>G NP_777596.2:p.Glu49Gly
NM_174936.4:c.146A>G MANE Select NP_777596.2:p.Glu49Gly
Search 100 bp 5'
Search 100 bp 3'