Canonical Allele Identifier: CA1777236939
Gene: PLPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765746A= , CM000670.2:g.37765746A= GRCh38
NC_000008.10:g.37623264A= , CM000670.1:g.37623264A= GRCh37
NC_000008.9:g.37742422A= NCBI36
NG_053030.1:g.8994A=

Transcript Alleles

HGVS Amino-acid change
ENST00000328195.8:c.243A= MANE Select ENSP00000333551.3:p.Lys81=
ENST00000328195.7:c.243A= ENSP00000333551.3:p.Lys81=
ENST00000518036.5:c.*95A= ENSP00000428005.1:n.*95A=
ENST00000520073.5:n.308A=
ENST00000523187.5:c.87A= ENSP00000427886.1:p.Lys29=
ENST00000523358.5:c.243A= ENSP00000427778.1:p.Lys81=
ENST00000523994.1:n.248A=
NM_007198.3:c.243A= NP_009129.1:p.Lys81=
NM_001349346.1:c.243A= NP_001336275.1:p.Lys81=
NM_001349347.1:c.237A= NP_001336276.1:p.Lys79=
NM_001349348.1:c.87A= NP_001336277.1:p.Lys29=
NM_001349349.1:c.348A= NP_001336278.1:p.Lys116=
NM_007198.4:c.243A= MANE Select NP_009129.1:p.Lys81=
NM_001349346.2:c.243A= NP_001336275.1:p.Lys81=
NM_001349347.2:c.237A= NP_001336276.1:p.Lys79=
NM_001349348.2:c.87A= NP_001336277.1:p.Lys29=