Canonical Allele Identifier: CA370666766

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623140G>T (hg19) ; chr8:g.37765622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765622G>T , CM000670.2:g.37765622G>T	GRCh38
NC_000008.10:g.37623140G>T , CM000670.1:g.37623140G>T	GRCh37
NC_000008.9:g.37742298G>T	NCBI36
NG_053030.1:g.8870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.196G>T MANE Select	ENSP00000333551.3:p.Gly66Cys
ENST00000328195.7:c.196G>T	ENSP00000333551.3:p.Gly66Cys
ENST00000518036.5:c.196G>T	ENSP00000428005.1:p.Gly66Cys
ENST00000520073.5:n.261G>T
ENST00000523187.5:c.40G>T	ENSP00000427886.1:p.Gly14Cys
ENST00000523358.5:c.196G>T	ENSP00000427778.1:p.Gly66Cys
ENST00000523994.1:n.201G>T
NM_007198.3:c.196G>T	NP_009129.1:p.Gly66Cys
NM_001349346.1:c.196G>T	NP_001336275.1:p.Gly66Cys
NM_001349347.1:c.196G>T	NP_001336276.1:p.Gly66Cys
NM_001349348.1:c.40G>T	NP_001336277.1:p.Gly14Cys
NM_001349349.1:c.301G>T	NP_001336278.1:p.Gly101Cys
NM_007198.4:c.196G>T MANE Select	NP_009129.1:p.Gly66Cys
NM_001349346.2:c.196G>T	NP_001336275.1:p.Gly66Cys
NM_001349347.2:c.196G>T	NP_001336276.1:p.Gly66Cys
NM_001349348.2:c.40G>T	NP_001336277.1:p.Gly14Cys