Canonical Allele Identifier: CA370666543
Gene: PLPBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765551T>A , CM000670.2:g.37765551T>A GRCh38
NC_000008.10:g.37623069T>A , CM000670.1:g.37623069T>A GRCh37
NC_000008.9:g.37742227T>A NCBI36
NG_053030.1:g.8799T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.125T>A MANE Select ENSP00000333551.3:p.Leu42Gln
ENST00000328195.7:c.125T>A ENSP00000333551.3:p.Leu42Gln
ENST00000518036.5:c.125T>A ENSP00000428005.1:p.Leu42Gln
ENST00000520073.5:n.190T>A
ENST00000523187.5:c.-32T>A ENSP00000427886.1:n.-32T>A
ENST00000523358.5:c.125T>A ENSP00000427778.1:p.Leu42Gln
ENST00000523994.1:n.130T>A
NM_007198.3:c.125T>A NP_009129.1:p.Leu42Gln
NM_001349346.1:c.125T>A NP_001336275.1:p.Leu42Gln
NM_001349347.1:c.125T>A NP_001336276.1:p.Leu42Gln
NM_001349348.1:c.-32T>A NP_001336277.1:n.-32T>A
NM_001349349.1:c.230T>A NP_001336278.1:p.Leu77Gln
NM_007198.4:c.125T>A MANE Select NP_009129.1:p.Leu42Gln
NM_001349346.2:c.125T>A NP_001336275.1:p.Leu42Gln
NM_001349347.2:c.125T>A NP_001336276.1:p.Leu42Gln
NM_001349348.2:c.-32T>A NP_001336277.1:n.-32T>A