Canonical Allele Identifier: CA1777236903
Gene: PLPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765634G= , CM000670.2:g.37765634G= GRCh38
NC_000008.10:g.37623152G= , CM000670.1:g.37623152G= GRCh37
NC_000008.9:g.37742310G= NCBI36
NG_053030.1:g.8882G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.207+1G= MANE Select ENSP00000333551.3:n.207+1G=
ENST00000328195.7:c.207+1G= ENSP00000333551.3:n.207+1G=
ENST00000518036.5:c.208G= ENSP00000428005.1:p.Val70=
ENST00000520073.5:n.272+1G=
ENST00000523187.5:c.51+1G= ENSP00000427886.1:n.51+1G=
ENST00000523358.5:c.207+1G= ENSP00000427778.1:n.207+1G=
ENST00000523994.1:n.212+1G=
NM_007198.3:c.207+1G= NP_009129.1:n.207+1G=
NM_001349346.1:c.207+1G= NP_001336275.1:n.207+1G=
NM_001349347.1:c.207+1G= NP_001336276.1:n.207+1G=
NM_001349348.1:c.51+1G= NP_001336277.1:n.51+1G=
NM_001349349.1:c.312+1G= NP_001336278.1:n.312+1G=
NM_007198.4:c.207+1G= MANE Select NP_009129.1:n.207+1G=
NM_001349346.2:c.207+1G= NP_001336275.1:n.207+1G=
NM_001349347.2:c.207+1G= NP_001336276.1:n.207+1G=
NM_001349348.2:c.51+1G= NP_001336277.1:n.51+1G=