Canonical Allele Identifier: CA1777240072

Gene: PLPBP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772865C= , CM000670.2:g.37772865C=	GRCh38
NC_000008.10:g.37630383C= , CM000670.1:g.37630383C=	GRCh37
NC_000008.9:g.37749541C=	NCBI36
NG_053030.1:g.16113C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.430C= MANE Select	ENSP00000333551.3:p.Gln144=
ENST00000328195.7:c.430C=	ENSP00000333551.3:p.Gln144=
ENST00000518036.5:c.*282C=	ENSP00000428005.1:n.*282C=
ENST00000521631.1:n.113C=
ENST00000523187.5:c.274C=	ENSP00000427886.1:p.Gln92=
ENST00000523358.5:c.430C=	ENSP00000427778.1:p.Gln144=
ENST00000523521.1:c.187C=	ENSP00000429425.1:p.Gln63=
NM_007198.3:c.430C=	NP_009129.1:p.Gln144=
NM_001349346.1:c.430C=	NP_001336275.1:p.Gln144=
NM_001349347.1:c.424C=	NP_001336276.1:p.Gln142=
NM_001349348.1:c.274C=	NP_001336277.1:p.Gln92=
NM_007198.4:c.430C= MANE Select	NP_009129.1:p.Gln144=
NM_001349346.2:c.430C=	NP_001336275.1:p.Gln144=
NM_001349347.2:c.424C=	NP_001336276.1:p.Gln142=
NM_001349348.2:c.274C=	NP_001336277.1:p.Gln92=