Canonical Allele Identifier: CA4711150

Gene: PLPBP

Linked Data

• dbSNP Id: rs766472215
• ExAC: 8:37623132 G / A
• gnomAD v2: 8-37623132-G-A
• gnomAD v4: 8-37765614-G-A
• COSMIC: COSM4367355
• MyVariant Identifiers: chr8:g.37623132G>A (hg19) ; chr8:g.37765614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765614G>A , CM000670.2:g.37765614G>A	GRCh38
NC_000008.10:g.37623132G>A , CM000670.1:g.37623132G>A	GRCh37
NC_000008.9:g.37742290G>A	NCBI36
NG_053030.1:g.8862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.188G>A MANE Select	ENSP00000333551.3:p.Arg63His
ENST00000328195.7:c.188G>A	ENSP00000333551.3:p.Arg63His
ENST00000518036.5:c.188G>A	ENSP00000428005.1:p.Arg63His
ENST00000520073.5:n.253G>A
ENST00000523187.5:c.32G>A	ENSP00000427886.1:p.Arg11His
ENST00000523358.5:c.188G>A	ENSP00000427778.1:p.Arg63His
ENST00000523994.1:n.193G>A
NM_007198.3:c.188G>A	NP_009129.1:p.Arg63His
NM_001349346.1:c.188G>A	NP_001336275.1:p.Arg63His
NM_001349347.1:c.188G>A	NP_001336276.1:p.Arg63His
NM_001349348.1:c.32G>A	NP_001336277.1:p.Arg11His
NM_001349349.1:c.293G>A	NP_001336278.1:p.Arg98His
NM_007198.4:c.188G>A MANE Select	NP_009129.1:p.Arg63His
NM_001349346.2:c.188G>A	NP_001336275.1:p.Arg63His
NM_001349347.2:c.188G>A	NP_001336276.1:p.Arg63His
NM_001349348.2:c.32G>A	NP_001336277.1:p.Arg11His