Canonical Allele Identifier: CA10770934
Gene: PCSK9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55047322G>A , CM000663.2:g.55047322G>A GRCh38
NC_000001.10:g.55512995G>A , CM000663.1:g.55512995G>A GRCh37
NC_000001.9:g.55285583G>A NCBI36
NG_009061.1:g.12776G>A , LRG_275:g.12776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.523+676G>A ENSP00000501161.2:n.523+676G>A
ENST00000710286.1:c.880+676G>A ENSP00000518176.1:n.880+676G>A
ENST00000673662.1:n.593G>A
ENST00000673726.1:c.523+676G>A ENSP00000501004.1:n.523+676G>A
ENST00000673903.1:c.148+676G>A ENSP00000501257.1:n.148+676G>A
ENST00000302118.5:c.523+676G>A MANE Select ENSP00000303208.5:n.523+676G>A
NM_174936.3:c.523+676G>A , LRG_275t1:c.523+676G>A NP_777596.2:n.523+676G>A
NR_110451.1:n.183-4956G>A
NM_174936.4:c.523+676G>A MANE Select NP_777596.2:n.523+676G>A
NR_110451.2:n.183-4956G>A
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