Canonical Allele Identifier: CA1777240097

Gene: PLPBP

Linked Data

• dbSNP Id: rs1803813302

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772916T>G , CM000670.2:g.37772916T>G	GRCh38
NC_000008.10:g.37630434T>G , CM000670.1:g.37630434T>G	GRCh37
NC_000008.9:g.37749592T>G	NCBI36
NG_053030.1:g.16164T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.454+27T>G MANE Select	ENSP00000333551.3:n.454+27T>G
ENST00000328195.7:c.454+27T>G	ENSP00000333551.3:n.454+27T>G
ENST00000521631.1:n.137+27T>G
ENST00000523187.5:c.298+27T>G	ENSP00000427886.1:n.298+27T>G
ENST00000523521.1:c.211+27T>G	ENSP00000429425.1:n.211+27T>G
NM_007198.3:c.454+27T>G	NP_009129.1:n.454+27T>G
NM_001349346.1:c.454+27T>G	NP_001336275.1:n.454+27T>G
NM_001349347.1:c.448+27T>G	NP_001336276.1:n.448+27T>G
NM_001349348.1:c.298+27T>G	NP_001336277.1:n.298+27T>G
NM_007198.4:c.454+27T>G MANE Select	NP_009129.1:n.454+27T>G
NM_001349346.2:c.454+27T>G	NP_001336275.1:n.454+27T>G
NM_001349347.2:c.448+27T>G	NP_001336276.1:n.448+27T>G
NM_001349348.2:c.298+27T>G	NP_001336277.1:n.298+27T>G