Canonical Allele Identifier: CA460359132

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630337T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772819T>C , CM000670.2:g.37772819T>C	GRCh38
NC_000008.10:g.37630337T>C , CM000670.1:g.37630337T>C	GRCh37
NC_000008.9:g.37749495T>C	NCBI36
NG_053030.1:g.16067T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.384T>C MANE Select	ENSP00000333551.3:p.Ser128=
ENST00000328195.7:c.384T>C	ENSP00000333551.3:p.Ser128=
ENST00000518036.5:c.*236T>C	ENSP00000428005.1:n.*236T>C
ENST00000521631.1:n.67T>C
ENST00000523187.5:c.228T>C	ENSP00000427886.1:p.Ser76=
ENST00000523358.5:c.384T>C	ENSP00000427778.1:p.Ser128=
ENST00000523521.1:c.141T>C	ENSP00000429425.1:p.Ser47=
NM_007198.3:c.384T>C	NP_009129.1:p.Ser128=
NM_001349346.1:c.384T>C	NP_001336275.1:p.Ser128=
NM_001349347.1:c.378T>C	NP_001336276.1:p.Ser126=
NM_001349348.1:c.228T>C	NP_001336277.1:p.Ser76=
NM_007198.4:c.384T>C MANE Select	NP_009129.1:p.Ser128=
NM_001349346.2:c.384T>C	NP_001336275.1:p.Ser128=
NM_001349347.2:c.378T>C	NP_001336276.1:p.Ser126=
NM_001349348.2:c.228T>C	NP_001336277.1:p.Ser76=