Canonical Allele Identifier: CA370667827

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630346G>C (hg19) ; chr8:g.37772828G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772828G>C , CM000670.2:g.37772828G>C	GRCh38
NC_000008.10:g.37630346G>C , CM000670.1:g.37630346G>C	GRCh37
NC_000008.9:g.37749504G>C	NCBI36
NG_053030.1:g.16076G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.393G>C MANE Select	ENSP00000333551.3:p.Gln131His
ENST00000328195.7:c.393G>C	ENSP00000333551.3:p.Gln131His
ENST00000518036.5:c.*245G>C	ENSP00000428005.1:n.*245G>C
ENST00000521631.1:n.76G>C
ENST00000523187.5:c.237G>C	ENSP00000427886.1:p.Gln79His
ENST00000523358.5:c.393G>C	ENSP00000427778.1:p.Gln131His
ENST00000523521.1:c.150G>C	ENSP00000429425.1:p.Gln50His
NM_007198.3:c.393G>C	NP_009129.1:p.Gln131His
NM_001349346.1:c.393G>C	NP_001336275.1:p.Gln131His
NM_001349347.1:c.387G>C	NP_001336276.1:p.Gln129His
NM_001349348.1:c.237G>C	NP_001336277.1:p.Gln79His
NM_007198.4:c.393G>C MANE Select	NP_009129.1:p.Gln131His
NM_001349346.2:c.393G>C	NP_001336275.1:p.Gln131His
NM_001349347.2:c.387G>C	NP_001336276.1:p.Gln129His
NM_001349348.2:c.237G>C	NP_001336277.1:p.Gln79His