Canonical Allele Identifier: CA4711168

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 1906471
• ClinVar RCV Id: RCV002586935
• dbSNP Id: rs774509060
• ExAC: 8:37623276 G / A
• gnomAD v2: 8-37623276-G-A
• gnomAD v3: 8-37765758-G-A
• gnomAD v4: 8-37765758-G-A
• MyVariant Identifiers: chr8:g.37623276G>A (hg19) ; chr8:g.37765758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765758G>A , CM000670.2:g.37765758G>A	GRCh38
NC_000008.10:g.37623276G>A , CM000670.1:g.37623276G>A	GRCh37
NC_000008.9:g.37742434G>A	NCBI36
NG_053030.1:g.9006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.243+12G>A MANE Select	ENSP00000333551.3:n.243+12G>A
ENST00000328195.7:c.243+12G>A	ENSP00000333551.3:n.243+12G>A
ENST00000518036.5:c.*95+12G>A	ENSP00000428005.1:n.*95+12G>A
ENST00000520073.5:n.308+12G>A
ENST00000523187.5:c.87+12G>A	ENSP00000427886.1:n.87+12G>A
ENST00000523358.5:c.243+12G>A	ENSP00000427778.1:n.243+12G>A
ENST00000523994.1:n.248+12G>A
NM_007198.3:c.243+12G>A	NP_009129.1:n.243+12G>A
NM_001349346.1:c.243+12G>A	NP_001336275.1:n.243+12G>A
NM_001349347.1:c.237+12G>A	NP_001336276.1:n.237+12G>A
NM_001349348.1:c.87+12G>A	NP_001336277.1:n.87+12G>A
NM_001349349.1:c.348+12G>A	NP_001336278.1:n.348+12G>A
NM_007198.4:c.243+12G>A MANE Select	NP_009129.1:n.243+12G>A
NM_001349346.2:c.243+12G>A	NP_001336275.1:n.243+12G>A
NM_001349347.2:c.237+12G>A	NP_001336276.1:n.237+12G>A
NM_001349348.2:c.87+12G>A	NP_001336277.1:n.87+12G>A