Canonical Allele Identifier: CA2686899480

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37765690-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765690T>G , CM000670.2:g.37765690T>G	GRCh38
NC_000008.10:g.37623208T>G , CM000670.1:g.37623208T>G	GRCh37
NC_000008.9:g.37742366T>G	NCBI36
NG_053030.1:g.8938T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.208-21T>G MANE Select	ENSP00000333551.3:n.208-21T>G
ENST00000328195.7:c.208-21T>G	ENSP00000333551.3:n.208-21T>G
ENST00000518036.5:c.*39T>G	ENSP00000428005.1:n.*39T>G
ENST00000520073.5:n.273-21T>G
ENST00000523187.5:c.52-21T>G	ENSP00000427886.1:n.52-21T>G
ENST00000523358.5:c.208-21T>G	ENSP00000427778.1:n.208-21T>G
ENST00000523994.1:n.213-21T>G
NM_007198.3:c.208-21T>G	NP_009129.1:n.208-21T>G
NM_001349346.1:c.208-21T>G	NP_001336275.1:n.208-21T>G
NM_001349347.1:c.208-27T>G	NP_001336276.1:n.208-27T>G
NM_001349348.1:c.52-21T>G	NP_001336277.1:n.52-21T>G
NM_001349349.1:c.313-21T>G	NP_001336278.1:n.313-21T>G
NM_007198.4:c.208-21T>G MANE Select	NP_009129.1:n.208-21T>G
NM_001349346.2:c.208-21T>G	NP_001336275.1:n.208-21T>G
NM_001349347.2:c.208-27T>G	NP_001336276.1:n.208-27T>G
NM_001349348.2:c.52-21T>G	NP_001336277.1:n.52-21T>G