Canonical Allele Identifier: CA370667724

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630300C>A (hg19) ; chr8:g.37772782C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772782C>A , CM000670.2:g.37772782C>A	GRCh38
NC_000008.10:g.37630300C>A , CM000670.1:g.37630300C>A	GRCh37
NC_000008.9:g.37749458C>A	NCBI36
NG_053030.1:g.16030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.347C>A MANE Select	ENSP00000333551.3:p.Thr116Lys
ENST00000328195.7:c.347C>A	ENSP00000333551.3:p.Thr116Lys
ENST00000518036.5:c.*199C>A	ENSP00000428005.1:n.*199C>A
ENST00000521631.1:n.30C>A
ENST00000523187.5:c.191C>A	ENSP00000427886.1:p.Thr64Lys
ENST00000523358.5:c.347C>A	ENSP00000427778.1:p.Thr116Lys
ENST00000523521.1:c.104C>A	ENSP00000429425.1:p.Thr35Lys
NM_007198.3:c.347C>A	NP_009129.1:p.Thr116Lys
NM_001349346.1:c.347C>A	NP_001336275.1:p.Thr116Lys
NM_001349347.1:c.341C>A	NP_001336276.1:p.Thr114Lys
NM_001349348.1:c.191C>A	NP_001336277.1:p.Thr64Lys
NM_007198.4:c.347C>A MANE Select	NP_009129.1:p.Thr116Lys
NM_001349346.2:c.347C>A	NP_001336275.1:p.Thr116Lys
NM_001349347.2:c.341C>A	NP_001336276.1:p.Thr114Lys
NM_001349348.2:c.191C>A	NP_001336277.1:p.Thr64Lys