Canonical Allele Identifier: CA4711217

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 1985002
• ClinVar RCV Id: RCV002775786
• dbSNP Id: rs760144494
• ExAC: 8:37630293 C / A
• gnomAD v2: 8-37630293-C-A
• gnomAD v3: 8-37772775-C-A
• gnomAD v4: 8-37772775-C-A
• MyVariant Identifiers: chr8:g.37630293C>A (hg19) ; chr8:g.37772775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772775C>A , CM000670.2:g.37772775C>A	GRCh38
NC_000008.10:g.37630293C>A , CM000670.1:g.37630293C>A	GRCh37
NC_000008.9:g.37749451C>A	NCBI36
NG_053030.1:g.16023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.340C>A MANE Select	ENSP00000333551.3:p.Leu114Met
ENST00000328195.7:c.340C>A	ENSP00000333551.3:p.Leu114Met
ENST00000518036.5:c.*192C>A	ENSP00000428005.1:n.*192C>A
ENST00000521631.1:n.23C>A
ENST00000523187.5:c.184C>A	ENSP00000427886.1:p.Leu62Met
ENST00000523358.5:c.340C>A	ENSP00000427778.1:p.Leu114Met
ENST00000523521.1:c.97C>A	ENSP00000429425.1:p.Leu33Met
NM_007198.3:c.340C>A	NP_009129.1:p.Leu114Met
NM_001349346.1:c.340C>A	NP_001336275.1:p.Leu114Met
NM_001349347.1:c.334C>A	NP_001336276.1:p.Leu112Met
NM_001349348.1:c.184C>A	NP_001336277.1:p.Leu62Met
NM_007198.4:c.340C>A MANE Select	NP_009129.1:p.Leu114Met
NM_001349346.2:c.340C>A	NP_001336275.1:p.Leu114Met
NM_001349347.2:c.334C>A	NP_001336276.1:p.Leu112Met
NM_001349348.2:c.184C>A	NP_001336277.1:p.Leu62Met