Canonical Allele Identifier: CA370666836

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623244G>C (hg19) ; chr8:g.37765726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765726G>C , CM000670.2:g.37765726G>C	GRCh38
NC_000008.10:g.37623244G>C , CM000670.1:g.37623244G>C	GRCh37
NC_000008.9:g.37742402G>C	NCBI36
NG_053030.1:g.8974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.223G>C MANE Select	ENSP00000333551.3:p.Glu75Gln
ENST00000328195.7:c.223G>C	ENSP00000333551.3:p.Glu75Gln
ENST00000518036.5:c.*75G>C	ENSP00000428005.1:n.*75G>C
ENST00000520073.5:n.288G>C
ENST00000523187.5:c.67G>C	ENSP00000427886.1:p.Glu23Gln
ENST00000523358.5:c.223G>C	ENSP00000427778.1:p.Glu75Gln
ENST00000523994.1:n.228G>C
NM_007198.3:c.223G>C	NP_009129.1:p.Glu75Gln
NM_001349346.1:c.223G>C	NP_001336275.1:p.Glu75Gln
NM_001349347.1:c.217G>C	NP_001336276.1:p.Glu73Gln
NM_001349348.1:c.67G>C	NP_001336277.1:p.Glu23Gln
NM_001349349.1:c.328G>C	NP_001336278.1:p.Glu110Gln
NM_007198.4:c.223G>C MANE Select	NP_009129.1:p.Glu75Gln
NM_001349346.2:c.223G>C	NP_001336275.1:p.Glu75Gln
NM_001349347.2:c.217G>C	NP_001336276.1:p.Glu73Gln
NM_001349348.2:c.67G>C	NP_001336277.1:p.Glu23Gln