Canonical Allele Identifier: CA1139941371
Community Standard Title: NM_174936.4(PCSK9):c.523+676G=
Gene: PCSK9 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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