Canonical Allele Identifier: CA2686901090

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37773011-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37773011C>A , CM000670.2:g.37773011C>A	GRCh38
NC_000008.10:g.37630529C>A , CM000670.1:g.37630529C>A	GRCh37
NC_000008.9:g.37749687C>A	NCBI36
NG_053030.1:g.16259C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.454+122C>A MANE Select	ENSP00000333551.3:n.454+122C>A
ENST00000328195.7:c.454+122C>A	ENSP00000333551.3:n.454+122C>A
ENST00000521631.1:n.137+122C>A
ENST00000523187.5:c.298+122C>A	ENSP00000427886.1:n.298+122C>A
ENST00000523521.1:c.211+122C>A	ENSP00000429425.1:n.211+122C>A
NM_007198.3:c.454+122C>A	NP_009129.1:n.454+122C>A
NM_001349346.1:c.454+122C>A	NP_001336275.1:n.454+122C>A
NM_001349347.1:c.448+122C>A	NP_001336276.1:n.448+122C>A
NM_001349348.1:c.298+122C>A	NP_001336277.1:n.298+122C>A
NM_007198.4:c.454+122C>A MANE Select	NP_009129.1:n.454+122C>A
NM_001349346.2:c.454+122C>A	NP_001336275.1:n.454+122C>A
NM_001349347.2:c.448+122C>A	NP_001336276.1:n.448+122C>A
NM_001349348.2:c.298+122C>A	NP_001336277.1:n.298+122C>A