Canonical Allele Identifier: CA4711233

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 1917998
• ClinVar RCV Id: RCV002601750 ; RCV004065695
• dbSNP Id: rs200888037
• ExAC: 8:37630393 C / G
• gnomAD v2: 8-37630393-C-G
• gnomAD v3: 8-37772875-C-G
• gnomAD v4: 8-37772875-C-G
• MyVariant Identifiers: chr8:g.37630393C>G (hg19) ; chr8:g.37772875C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772875C>G , CM000670.2:g.37772875C>G	GRCh38
NC_000008.10:g.37630393C>G , CM000670.1:g.37630393C>G	GRCh37
NC_000008.9:g.37749551C>G	NCBI36
NG_053030.1:g.16123C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.440C>G MANE Select	ENSP00000333551.3:p.Thr147Ser
ENST00000328195.7:c.440C>G	ENSP00000333551.3:p.Thr147Ser
ENST00000521631.1:n.123C>G
ENST00000523187.5:c.284C>G	ENSP00000427886.1:p.Thr95Ser
ENST00000523358.5:c.440C>G	ENSP00000427778.1:p.Thr147Ser
ENST00000523521.1:c.197C>G	ENSP00000429425.1:p.Thr66Ser
NM_007198.3:c.440C>G	NP_009129.1:p.Thr147Ser
NM_001349346.1:c.440C>G	NP_001336275.1:p.Thr147Ser
NM_001349347.1:c.434C>G	NP_001336276.1:p.Thr145Ser
NM_001349348.1:c.284C>G	NP_001336277.1:p.Thr95Ser
NM_007198.4:c.440C>G MANE Select	NP_009129.1:p.Thr147Ser
NM_001349346.2:c.440C>G	NP_001336275.1:p.Thr147Ser
NM_001349347.2:c.434C>G	NP_001336276.1:p.Thr145Ser
NM_001349348.2:c.284C>G	NP_001336277.1:p.Thr95Ser