Canonical Allele Identifier: CA370666830

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623241C>G (hg19) ; chr8:g.37765723C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765723C>G , CM000670.2:g.37765723C>G	GRCh38
NC_000008.10:g.37623241C>G , CM000670.1:g.37623241C>G	GRCh37
NC_000008.9:g.37742399C>G	NCBI36
NG_053030.1:g.8971C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.220C>G MANE Select	ENSP00000333551.3:p.Leu74Val
ENST00000328195.7:c.220C>G	ENSP00000333551.3:p.Leu74Val
ENST00000518036.5:c.*72C>G	ENSP00000428005.1:n.*72C>G
ENST00000520073.5:n.285C>G
ENST00000523187.5:c.64C>G	ENSP00000427886.1:p.Leu22Val
ENST00000523358.5:c.220C>G	ENSP00000427778.1:p.Leu74Val
ENST00000523994.1:n.225C>G
NM_007198.3:c.220C>G	NP_009129.1:p.Leu74Val
NM_001349346.1:c.220C>G	NP_001336275.1:p.Leu74Val
NM_001349347.1:c.214C>G	NP_001336276.1:p.Leu72Val
NM_001349348.1:c.64C>G	NP_001336277.1:p.Leu22Val
NM_001349349.1:c.325C>G	NP_001336278.1:p.Leu109Val
NM_007198.4:c.220C>G MANE Select	NP_009129.1:p.Leu74Val
NM_001349346.2:c.220C>G	NP_001336275.1:p.Leu74Val
NM_001349347.2:c.214C>G	NP_001336276.1:p.Leu72Val
NM_001349348.2:c.64C>G	NP_001336277.1:p.Leu22Val