Canonical Allele Identifier: CA2571594687
Gene: PCSK9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039532C>A , CM000663.2:g.55039532C>A GRCh38
NC_000001.10:g.55505205C>A , CM000663.1:g.55505205C>A GRCh37
NC_000001.9:g.55277793C>A NCBI36
NG_009061.1:g.4986C>A , LRG_275:g.4986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-306C>A ENSP00000501161.2:n.-306C>A
ENST00000710286.1:c.52C>A ENSP00000518176.1:p.Pro18Thr
ENST00000673726.1:c.-306C>A ENSP00000501004.1:n.-306C>A
NM_174936.3:c.-306C>A , LRG_275t1:c.-306C>A NP_777596.2:n.-306C>A
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