Canonical Allele Identifier: CA1777236875

Gene: PLPBP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765569C= , CM000670.2:g.37765569C=	GRCh38
NC_000008.10:g.37623087C= , CM000670.1:g.37623087C=	GRCh37
NC_000008.9:g.37742245C=	NCBI36
NG_053030.1:g.8817C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.143C= MANE Select	ENSP00000333551.3:p.Thr48=
ENST00000328195.7:c.143C=	ENSP00000333551.3:p.Thr48=
ENST00000518036.5:c.143C=	ENSP00000428005.1:p.Thr48=
ENST00000520073.5:n.208C=
ENST00000523187.5:c.-14C=	ENSP00000427886.1:n.-14C=
ENST00000523358.5:c.143C=	ENSP00000427778.1:p.Thr48=
ENST00000523994.1:n.148C=
NM_007198.3:c.143C=	NP_009129.1:p.Thr48=
NM_001349346.1:c.143C=	NP_001336275.1:p.Thr48=
NM_001349347.1:c.143C=	NP_001336276.1:p.Thr48=
NM_001349348.1:c.-14C=	NP_001336277.1:n.-14C=
NM_001349349.1:c.248C=	NP_001336278.1:p.Thr83=
NM_007198.4:c.143C= MANE Select	NP_009129.1:p.Thr48=
NM_001349346.2:c.143C=	NP_001336275.1:p.Thr48=
NM_001349347.2:c.143C=	NP_001336276.1:p.Thr48=
NM_001349348.2:c.-14C=	NP_001336277.1:n.-14C=