Canonical Allele Identifier: CA4711180

Gene: PLPBP

Linked Data

• dbSNP Id: rs780875567
• ExAC: 8:37623316 T / G
• gnomAD v2: 8-37623316-T-G
• gnomAD v3: 8-37765798-T-G
• gnomAD v4: 8-37765798-T-G
• MyVariant Identifiers: chr8:g.37623316T>G (hg19) ; chr8:g.37765798T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765798T>G , CM000670.2:g.37765798T>G	GRCh38
NC_000008.10:g.37623316T>G , CM000670.1:g.37623316T>G	GRCh37
NC_000008.9:g.37742474T>G	NCBI36
NG_053030.1:g.9046T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.243+52T>G MANE Select	ENSP00000333551.3:n.243+52T>G
ENST00000328195.7:c.243+52T>G	ENSP00000333551.3:n.243+52T>G
ENST00000518036.5:c.*95+52T>G	ENSP00000428005.1:n.*95+52T>G
ENST00000520073.5:n.308+52T>G
ENST00000523187.5:c.87+52T>G	ENSP00000427886.1:n.87+52T>G
ENST00000523358.5:c.243+52T>G	ENSP00000427778.1:n.243+52T>G
ENST00000523994.1:n.248+52T>G
NM_007198.3:c.243+52T>G	NP_009129.1:n.243+52T>G
NM_001349346.1:c.243+52T>G	NP_001336275.1:n.243+52T>G
NM_001349347.1:c.237+52T>G	NP_001336276.1:n.237+52T>G
NM_001349348.1:c.87+52T>G	NP_001336277.1:n.87+52T>G
NM_001349349.1:c.348+52T>G	NP_001336278.1:n.348+52T>G
NM_007198.4:c.243+52T>G MANE Select	NP_009129.1:n.243+52T>G
NM_001349346.2:c.243+52T>G	NP_001336275.1:n.243+52T>G
NM_001349347.2:c.237+52T>G	NP_001336276.1:n.237+52T>G
NM_001349348.2:c.87+52T>G	NP_001336277.1:n.87+52T>G