Canonical Allele Identifier: CA1777236933
Gene: PLPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765719A= , CM000670.2:g.37765719A= GRCh38
NC_000008.10:g.37623237A= , CM000670.1:g.37623237A= GRCh37
NC_000008.9:g.37742395A= NCBI36
NG_053030.1:g.8967A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.216A= MANE Select ENSP00000333551.3:p.Glu72=
ENST00000328195.7:c.216A= ENSP00000333551.3:p.Glu72=
ENST00000518036.5:c.*68A= ENSP00000428005.1:n.*68A=
ENST00000520073.5:n.281A=
ENST00000523187.5:c.60A= ENSP00000427886.1:p.Glu20=
ENST00000523358.5:c.216A= ENSP00000427778.1:p.Glu72=
ENST00000523994.1:n.221A=
NM_007198.3:c.216A= NP_009129.1:p.Glu72=
NM_001349346.1:c.216A= NP_001336275.1:p.Glu72=
NM_001349347.1:c.210A= NP_001336276.1:p.Glu70=
NM_001349348.1:c.60A= NP_001336277.1:p.Glu20=
NM_001349349.1:c.321A= NP_001336278.1:p.Glu107=
NM_007198.4:c.216A= MANE Select NP_009129.1:p.Glu72=
NM_001349346.2:c.216A= NP_001336275.1:p.Glu72=
NM_001349347.2:c.210A= NP_001336276.1:p.Glu70=
NM_001349348.2:c.60A= NP_001336277.1:p.Glu20=