Canonical Allele Identifier: CA370667815

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 2444519
• ClinVar RCV Id: RCV003154318
• dbSNP Id: rs1563326405
• MyVariant Identifiers: chr8:g.37630342G>A (hg19) ; chr8:g.37772824G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772824G>A , CM000670.2:g.37772824G>A	GRCh38
NC_000008.10:g.37630342G>A , CM000670.1:g.37630342G>A	GRCh37
NC_000008.9:g.37749500G>A	NCBI36
NG_053030.1:g.16072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.389G>A MANE Select	ENSP00000333551.3:p.Trp130Ter
ENST00000328195.7:c.389G>A	ENSP00000333551.3:p.Trp130Ter
ENST00000518036.5:c.*241G>A	ENSP00000428005.1:n.*241G>A
ENST00000521631.1:n.72G>A
ENST00000523187.5:c.233G>A	ENSP00000427886.1:p.Trp78Ter
ENST00000523358.5:c.389G>A	ENSP00000427778.1:p.Trp130Ter
ENST00000523521.1:c.146G>A	ENSP00000429425.1:p.Trp49Ter
NM_007198.3:c.389G>A	NP_009129.1:p.Trp130Ter
NM_001349346.1:c.389G>A	NP_001336275.1:p.Trp130Ter
NM_001349347.1:c.383G>A	NP_001336276.1:p.Trp128Ter
NM_001349348.1:c.233G>A	NP_001336277.1:p.Trp78Ter
NM_007198.4:c.389G>A MANE Select	NP_009129.1:p.Trp130Ter
NM_001349346.2:c.389G>A	NP_001336275.1:p.Trp130Ter
NM_001349347.2:c.383G>A	NP_001336276.1:p.Trp128Ter
NM_001349348.2:c.233G>A	NP_001336277.1:p.Trp78Ter