Canonical Allele Identifier: CA370668283

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37632858T>G (hg19) ; chr8:g.37775340T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37775340T>G , CM000670.2:g.37775340T>G	GRCh38
NC_000008.10:g.37632858T>G , CM000670.1:g.37632858T>G	GRCh37
NC_000008.9:g.37752016T>G	NCBI36
NG_053030.1:g.18588T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.456T>G MANE Select	ENSP00000333551.3:p.Ser152Arg
ENST00000328195.7:c.456T>G	ENSP00000333551.3:p.Ser152Arg
ENST00000521631.1:n.139T>G
ENST00000522808.1:n.405T>G
ENST00000523187.5:c.300T>G	ENSP00000427886.1:p.Ser100Arg
ENST00000523521.1:c.243T>G	ENSP00000429425.1:p.Gly81=
NM_007198.3:c.456T>G	NP_009129.1:p.Ser152Arg
NM_001349346.1:c.486T>G	NP_001336275.1:p.Gly162=
NM_001349347.1:c.450T>G	NP_001336276.1:p.Ser150Arg
NM_001349348.1:c.300T>G	NP_001336277.1:p.Ser100Arg
NM_007198.4:c.456T>G MANE Select	NP_009129.1:p.Ser152Arg
NM_001349346.2:c.486T>G	NP_001336275.1:p.Gly162=
NM_001349347.2:c.450T>G	NP_001336276.1:p.Ser150Arg
NM_001349348.2:c.300T>G	NP_001336277.1:p.Ser100Arg