Canonical Allele Identifier: CA1777236869

Gene: PLPBP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765550C= , CM000670.2:g.37765550C=	GRCh38
NC_000008.10:g.37623068C= , CM000670.1:g.37623068C=	GRCh37
NC_000008.9:g.37742226C=	NCBI36
NG_053030.1:g.8798C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.124C= MANE Select	ENSP00000333551.3:p.Leu42=
ENST00000328195.7:c.124C=	ENSP00000333551.3:p.Leu42=
ENST00000518036.5:c.124C=	ENSP00000428005.1:p.Leu42=
ENST00000520073.5:n.189C=
ENST00000523187.5:c.-33C=	ENSP00000427886.1:n.-33C=
ENST00000523358.5:c.124C=	ENSP00000427778.1:p.Leu42=
ENST00000523994.1:n.129C=
NM_007198.3:c.124C=	NP_009129.1:p.Leu42=
NM_001349346.1:c.124C=	NP_001336275.1:p.Leu42=
NM_001349347.1:c.124C=	NP_001336276.1:p.Leu42=
NM_001349348.1:c.-33C=	NP_001336277.1:n.-33C=
NM_001349349.1:c.229C=	NP_001336278.1:p.Leu77=
NM_007198.4:c.124C= MANE Select	NP_009129.1:p.Leu42=
NM_001349346.2:c.124C=	NP_001336275.1:p.Leu42=
NM_001349347.2:c.124C=	NP_001336276.1:p.Leu42=
NM_001349348.2:c.-33C=	NP_001336277.1:n.-33C=