Canonical Allele Identifier: CA12892687

Gene: PLPBP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37775854T>A , CM000670.2:g.37775854T>A	GRCh38
NC_000008.10:g.37633372T>A , CM000670.1:g.37633372T>A	GRCh37
NC_000008.9:g.37752530T>A	NCBI36
NG_053030.1:g.19102T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.598-64T>A MANE Select	ENSP00000333551.3:n.598-64T>A
ENST00000328195.7:c.598-64T>A	ENSP00000333551.3:n.598-64T>A
ENST00000522808.1:n.547-64T>A
NM_007198.3:c.598-64T>A	NP_009129.1:n.598-64T>A
NM_001349346.1:c.628-64T>A	NP_001336275.1:n.628-64T>A
NM_001349347.1:c.592-64T>A	NP_001336276.1:n.592-64T>A
NM_001349348.1:c.442-64T>A	NP_001336277.1:n.442-64T>A
NM_007198.4:c.598-64T>A MANE Select	NP_009129.1:n.598-64T>A
NM_001349346.2:c.628-64T>A	NP_001336275.1:n.628-64T>A
NM_001349347.2:c.592-64T>A	NP_001336276.1:n.592-64T>A
NM_001349348.2:c.442-64T>A	NP_001336277.1:n.442-64T>A