Canonical Allele Identifier: CA370667932
Gene: PLPBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37772874A>G , CM000670.2:g.37772874A>G GRCh38
NC_000008.10:g.37630392A>G , CM000670.1:g.37630392A>G GRCh37
NC_000008.9:g.37749550A>G NCBI36
NG_053030.1:g.16122A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.439A>G MANE Select ENSP00000333551.3:p.Thr147Ala
ENST00000328195.7:c.439A>G ENSP00000333551.3:p.Thr147Ala
ENST00000521631.1:n.122A>G
ENST00000523187.5:c.283A>G ENSP00000427886.1:p.Thr95Ala
ENST00000523358.5:c.439A>G ENSP00000427778.1:p.Thr147Ala
ENST00000523521.1:c.196A>G ENSP00000429425.1:p.Thr66Ala
NM_007198.3:c.439A>G NP_009129.1:p.Thr147Ala
NM_001349346.1:c.439A>G NP_001336275.1:p.Thr147Ala
NM_001349347.1:c.433A>G NP_001336276.1:p.Thr145Ala
NM_001349348.1:c.283A>G NP_001336277.1:p.Thr95Ala
NM_007198.4:c.439A>G MANE Select NP_009129.1:p.Thr147Ala
NM_001349346.2:c.439A>G NP_001336275.1:p.Thr147Ala
NM_001349347.2:c.433A>G NP_001336276.1:p.Thr145Ala
NM_001349348.2:c.283A>G NP_001336277.1:p.Thr95Ala