Canonical Allele Identifier: CA370667803

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630336G>C (hg19) ; chr8:g.37772818G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772818G>C , CM000670.2:g.37772818G>C	GRCh38
NC_000008.10:g.37630336G>C , CM000670.1:g.37630336G>C	GRCh37
NC_000008.9:g.37749494G>C	NCBI36
NG_053030.1:g.16066G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.383G>C MANE Select	ENSP00000333551.3:p.Ser128Thr
ENST00000328195.7:c.383G>C	ENSP00000333551.3:p.Ser128Thr
ENST00000518036.5:c.*235G>C	ENSP00000428005.1:n.*235G>C
ENST00000521631.1:n.66G>C
ENST00000523187.5:c.227G>C	ENSP00000427886.1:p.Ser76Thr
ENST00000523358.5:c.383G>C	ENSP00000427778.1:p.Ser128Thr
ENST00000523521.1:c.140G>C	ENSP00000429425.1:p.Ser47Thr
NM_007198.3:c.383G>C	NP_009129.1:p.Ser128Thr
NM_001349346.1:c.383G>C	NP_001336275.1:p.Ser128Thr
NM_001349347.1:c.377G>C	NP_001336276.1:p.Ser126Thr
NM_001349348.1:c.227G>C	NP_001336277.1:p.Ser76Thr
NM_007198.4:c.383G>C MANE Select	NP_009129.1:p.Ser128Thr
NM_001349346.2:c.383G>C	NP_001336275.1:p.Ser128Thr
NM_001349347.2:c.377G>C	NP_001336276.1:p.Ser126Thr
NM_001349348.2:c.227G>C	NP_001336277.1:p.Ser76Thr