Canonical Allele Identifier: CA1777237035
Gene: PLPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765959C= , CM000670.2:g.37765959C= GRCh38
NC_000008.10:g.37623477C= , CM000670.1:g.37623477C= GRCh37
NC_000008.9:g.37742635C= NCBI36
NG_053030.1:g.9207C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.243+213C= MANE Select ENSP00000333551.3:n.243+213C=
ENST00000328195.7:c.243+213C= ENSP00000333551.3:n.243+213C=
ENST00000518036.5:c.*95+213C= ENSP00000428005.1:n.*95+213C=
ENST00000520073.5:n.308+213C=
ENST00000523187.5:c.87+213C= ENSP00000427886.1:n.87+213C=
ENST00000523358.5:c.243+213C= ENSP00000427778.1:n.243+213C=
ENST00000523994.1:n.248+213C=
NM_007198.3:c.243+213C= NP_009129.1:n.243+213C=
NM_001349346.1:c.243+213C= NP_001336275.1:n.243+213C=
NM_001349347.1:c.237+213C= NP_001336276.1:n.237+213C=
NM_001349348.1:c.87+213C= NP_001336277.1:n.87+213C=
NM_001349349.1:c.348+213C= NP_001336278.1:n.348+213C=
NM_007198.4:c.243+213C= MANE Select NP_009129.1:n.243+213C=
NM_001349346.2:c.243+213C= NP_001336275.1:n.243+213C=
NM_001349347.2:c.237+213C= NP_001336276.1:n.237+213C=
NM_001349348.2:c.87+213C= NP_001336277.1:n.87+213C=