Canonical Allele Identifier: CA581101097

Gene: PLPBP

Linked Data

• dbSNP Id: rs1457341549
• gnomAD v2: 8-37623061-G-GC
• gnomAD v4: 8-37765543-G-GC
• MyVariant Identifiers: chr8:g.37623061_37623062insC (hg19) ; chr8:g.37765543_37765544insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765547dup , CM000670.2:g.37765547dup	GRCh38
NC_000008.10:g.37623065dup , CM000670.1:g.37623065dup	GRCh37
NC_000008.9:g.37742223dup	NCBI36
NG_053030.1:g.8795dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.121dup MANE Select	ENSP00000333551.3:p.Arg41ProfsTer?
ENST00000328195.7:c.121dup	ENSP00000333551.3:p.Arg41ProfsTer?
ENST00000518036.5:c.121dup	ENSP00000428005.1:p.Arg41ProfsTer?
ENST00000520073.5:n.186dup
ENST00000523187.5:c.-36dup	ENSP00000427886.1:n.-36dup
ENST00000523358.5:c.121dup	ENSP00000427778.1:p.Arg41ProfsTer?
ENST00000523994.1:n.126dup
NM_007198.3:c.121dup	NP_009129.1:p.Arg41ProfsTer?
NM_001349346.1:c.121dup	NP_001336275.1:p.Arg41ProfsTer?
NM_001349347.1:c.121dup	NP_001336276.1:p.Arg41ProfsTer?
NM_001349348.1:c.-36dup	NP_001336277.1:n.-36dup
NM_001349349.1:c.226dup	NP_001336278.1:p.Arg76ProfsTer?
NM_007198.4:c.121dup MANE Select	NP_009129.1:p.Arg41ProfsTer?
NM_001349346.2:c.121dup	NP_001336275.1:p.Arg41ProfsTer?
NM_001349347.2:c.121dup	NP_001336276.1:p.Arg41ProfsTer?
NM_001349348.2:c.-36dup	NP_001336277.1:n.-36dup