Canonical Allele Identifier: CA370666746

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623131C>A (hg19) ; chr8:g.37765613C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765613C>A , CM000670.2:g.37765613C>A	GRCh38
NC_000008.10:g.37623131C>A , CM000670.1:g.37623131C>A	GRCh37
NC_000008.9:g.37742289C>A	NCBI36
NG_053030.1:g.8861C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.187C>A MANE Select	ENSP00000333551.3:p.Arg63Ser
ENST00000328195.7:c.187C>A	ENSP00000333551.3:p.Arg63Ser
ENST00000518036.5:c.187C>A	ENSP00000428005.1:p.Arg63Ser
ENST00000520073.5:n.252C>A
ENST00000523187.5:c.31C>A	ENSP00000427886.1:p.Arg11Ser
ENST00000523358.5:c.187C>A	ENSP00000427778.1:p.Arg63Ser
ENST00000523994.1:n.192C>A
NM_007198.3:c.187C>A	NP_009129.1:p.Arg63Ser
NM_001349346.1:c.187C>A	NP_001336275.1:p.Arg63Ser
NM_001349347.1:c.187C>A	NP_001336276.1:p.Arg63Ser
NM_001349348.1:c.31C>A	NP_001336277.1:p.Arg11Ser
NM_001349349.1:c.292C>A	NP_001336278.1:p.Arg98Ser
NM_007198.4:c.187C>A MANE Select	NP_009129.1:p.Arg63Ser
NM_001349346.2:c.187C>A	NP_001336275.1:p.Arg63Ser
NM_001349347.2:c.187C>A	NP_001336276.1:p.Arg63Ser
NM_001349348.2:c.31C>A	NP_001336277.1:p.Arg11Ser