Canonical Allele Identifier: CA370667766

Gene: PLPBP

Linked Data

• COSMIC: COSM4798271
• MyVariant Identifiers: chr8:g.37630320G>A (hg19) ; chr8:g.37772802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772802G>A , CM000670.2:g.37772802G>A	GRCh38
NC_000008.10:g.37630320G>A , CM000670.1:g.37630320G>A	GRCh37
NC_000008.9:g.37749478G>A	NCBI36
NG_053030.1:g.16050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.367G>A MANE Select	ENSP00000333551.3:p.Ala123Thr
ENST00000328195.7:c.367G>A	ENSP00000333551.3:p.Ala123Thr
ENST00000518036.5:c.*219G>A	ENSP00000428005.1:n.*219G>A
ENST00000521631.1:n.50G>A
ENST00000523187.5:c.211G>A	ENSP00000427886.1:p.Ala71Thr
ENST00000523358.5:c.367G>A	ENSP00000427778.1:p.Ala123Thr
ENST00000523521.1:c.124G>A	ENSP00000429425.1:p.Ala42Thr
NM_007198.3:c.367G>A	NP_009129.1:p.Ala123Thr
NM_001349346.1:c.367G>A	NP_001336275.1:p.Ala123Thr
NM_001349347.1:c.361G>A	NP_001336276.1:p.Ala121Thr
NM_001349348.1:c.211G>A	NP_001336277.1:p.Ala71Thr
NM_007198.4:c.367G>A MANE Select	NP_009129.1:p.Ala123Thr
NM_001349346.2:c.367G>A	NP_001336275.1:p.Ala123Thr
NM_001349347.2:c.361G>A	NP_001336276.1:p.Ala121Thr
NM_001349348.2:c.211G>A	NP_001336277.1:p.Ala71Thr