Canonical Allele Identifier: CA340482857
Gene: PCSK9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.55505653A>C (hg19) chr1:g.55039980A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039980A>C , CM000663.2:g.55039980A>C GRCh38
NC_000001.10:g.55505653A>C , CM000663.1:g.55505653A>C GRCh37
NC_000001.9:g.55278241A>C NCBI36
NG_009061.1:g.5434A>C , LRG_275:g.5434A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.143A>C ENSP00000501161.2:p.Glu48Ala
ENST00000710286.1:c.500A>C ENSP00000518176.1:p.Glu167Ala
ENST00000673726.1:c.143A>C ENSP00000501004.1:p.Glu48Ala
ENST00000302118.5:c.143A>C MANE Select ENSP00000303208.5:p.Glu48Ala
NM_174936.3:c.143A>C , LRG_275t1:c.143A>C NP_777596.2:p.Glu48Ala
NM_174936.4:c.143A>C MANE Select NP_777596.2:p.Glu48Ala
Search 100 bp 5'
Search 100 bp 3'