Canonical Allele Identifier: CA370667817

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630342G>T (hg19) ; chr8:g.37772824G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772824G>T , CM000670.2:g.37772824G>T	GRCh38
NC_000008.10:g.37630342G>T , CM000670.1:g.37630342G>T	GRCh37
NC_000008.9:g.37749500G>T	NCBI36
NG_053030.1:g.16072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.389G>T MANE Select	ENSP00000333551.3:p.Trp130Leu
ENST00000328195.7:c.389G>T	ENSP00000333551.3:p.Trp130Leu
ENST00000518036.5:c.*241G>T	ENSP00000428005.1:n.*241G>T
ENST00000521631.1:n.72G>T
ENST00000523187.5:c.233G>T	ENSP00000427886.1:p.Trp78Leu
ENST00000523358.5:c.389G>T	ENSP00000427778.1:p.Trp130Leu
ENST00000523521.1:c.146G>T	ENSP00000429425.1:p.Trp49Leu
NM_007198.3:c.389G>T	NP_009129.1:p.Trp130Leu
NM_001349346.1:c.389G>T	NP_001336275.1:p.Trp130Leu
NM_001349347.1:c.383G>T	NP_001336276.1:p.Trp128Leu
NM_001349348.1:c.233G>T	NP_001336277.1:p.Trp78Leu
NM_007198.4:c.389G>T MANE Select	NP_009129.1:p.Trp130Leu
NM_001349346.2:c.389G>T	NP_001336275.1:p.Trp130Leu
NM_001349347.2:c.383G>T	NP_001336276.1:p.Trp128Leu
NM_001349348.2:c.233G>T	NP_001336277.1:p.Trp78Leu