Canonical Allele Identifier: CA370666696

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 2023257
• ClinVar RCV Id: RCV002857814
• dbSNP Id: rs372146404
• MyVariant Identifiers: chr8:g.37623109C>G (hg19) ; chr8:g.37765591C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765591C>G , CM000670.2:g.37765591C>G	GRCh38
NC_000008.10:g.37623109C>G , CM000670.1:g.37623109C>G	GRCh37
NC_000008.9:g.37742267C>G	NCBI36
NG_053030.1:g.8839C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.165C>G MANE Select	ENSP00000333551.3:p.Ile55Met
ENST00000328195.7:c.165C>G	ENSP00000333551.3:p.Ile55Met
ENST00000518036.5:c.165C>G	ENSP00000428005.1:p.Ile55Met
ENST00000520073.5:n.230C>G
ENST00000523187.5:c.9C>G	ENSP00000427886.1:p.Ile3Met
ENST00000523358.5:c.165C>G	ENSP00000427778.1:p.Ile55Met
ENST00000523994.1:n.170C>G
NM_007198.3:c.165C>G	NP_009129.1:p.Ile55Met
NM_001349346.1:c.165C>G	NP_001336275.1:p.Ile55Met
NM_001349347.1:c.165C>G	NP_001336276.1:p.Ile55Met
NM_001349348.1:c.9C>G	NP_001336277.1:p.Ile3Met
NM_001349349.1:c.270C>G	NP_001336278.1:p.Ile90Met
NM_007198.4:c.165C>G MANE Select	NP_009129.1:p.Ile55Met
NM_001349346.2:c.165C>G	NP_001336275.1:p.Ile55Met
NM_001349347.2:c.165C>G	NP_001336276.1:p.Ile55Met
NM_001349348.2:c.9C>G	NP_001336277.1:p.Ile3Met