Canonical Allele Identifier: CA1777240032

Gene: PLPBP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772766C= , CM000670.2:g.37772766C=	GRCh38
NC_000008.10:g.37630284C= , CM000670.1:g.37630284C=	GRCh37
NC_000008.9:g.37749442C=	NCBI36
NG_053030.1:g.16014C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.331C= MANE Select	ENSP00000333551.3:p.Leu111=
ENST00000328195.7:c.331C=	ENSP00000333551.3:p.Leu111=
ENST00000518036.5:c.*183C=	ENSP00000428005.1:n.*183C=
ENST00000521631.1:n.14C=
ENST00000523187.5:c.175C=	ENSP00000427886.1:p.Leu59=
ENST00000523358.5:c.331C=	ENSP00000427778.1:p.Leu111=
ENST00000523521.1:c.88C=	ENSP00000429425.1:p.Leu30=
NM_007198.3:c.331C=	NP_009129.1:p.Leu111=
NM_001349346.1:c.331C=	NP_001336275.1:p.Leu111=
NM_001349347.1:c.325C=	NP_001336276.1:p.Leu109=
NM_001349348.1:c.175C=	NP_001336277.1:p.Leu59=
NM_007198.4:c.331C= MANE Select	NP_009129.1:p.Leu111=
NM_001349346.2:c.331C=	NP_001336275.1:p.Leu111=
NM_001349347.2:c.325C=	NP_001336276.1:p.Leu109=
NM_001349348.2:c.175C=	NP_001336277.1:p.Leu59=