Canonical Allele Identifier: CA460359003

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623231T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765713T>A , CM000670.2:g.37765713T>A	GRCh38
NC_000008.10:g.37623231T>A , CM000670.1:g.37623231T>A	GRCh37
NC_000008.9:g.37742389T>A	NCBI36
NG_053030.1:g.8961T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.210T>A MANE Select	ENSP00000333551.3:p.Val70=
ENST00000328195.7:c.210T>A	ENSP00000333551.3:p.Val70=
ENST00000518036.5:c.*62T>A	ENSP00000428005.1:n.*62T>A
ENST00000520073.5:n.275T>A
ENST00000523187.5:c.54T>A	ENSP00000427886.1:p.Val18=
ENST00000523358.5:c.210T>A	ENSP00000427778.1:p.Val70=
ENST00000523994.1:n.215T>A
NM_007198.3:c.210T>A	NP_009129.1:p.Val70=
NM_001349346.1:c.210T>A	NP_001336275.1:p.Val70=
NM_001349347.1:c.208-4T>A	NP_001336276.1:n.208-4T>A
NM_001349348.1:c.54T>A	NP_001336277.1:p.Val18=
NM_001349349.1:c.315T>A	NP_001336278.1:p.Val105=
NM_007198.4:c.210T>A MANE Select	NP_009129.1:p.Val70=
NM_001349346.2:c.210T>A	NP_001336275.1:p.Val70=
NM_001349347.2:c.208-4T>A	NP_001336276.1:n.208-4T>A
NM_001349348.2:c.54T>A	NP_001336277.1:p.Val18=