Canonical Allele Identifier: CA370666876
Gene: PLPBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765744A>G , CM000670.2:g.37765744A>G GRCh38
NC_000008.10:g.37623262A>G , CM000670.1:g.37623262A>G GRCh37
NC_000008.9:g.37742420A>G NCBI36
NG_053030.1:g.8992A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.241A>G MANE Select ENSP00000333551.3:p.Lys81Glu
ENST00000328195.7:c.241A>G ENSP00000333551.3:p.Lys81Glu
ENST00000518036.5:c.*93A>G ENSP00000428005.1:n.*93A>G
ENST00000520073.5:n.306A>G
ENST00000523187.5:c.85A>G ENSP00000427886.1:p.Lys29Glu
ENST00000523358.5:c.241A>G ENSP00000427778.1:p.Lys81Glu
ENST00000523994.1:n.246A>G
NM_007198.3:c.241A>G NP_009129.1:p.Lys81Glu
NM_001349346.1:c.241A>G NP_001336275.1:p.Lys81Glu
NM_001349347.1:c.235A>G NP_001336276.1:p.Lys79Glu
NM_001349348.1:c.85A>G NP_001336277.1:p.Lys29Glu
NM_001349349.1:c.346A>G NP_001336278.1:p.Lys116Glu
NM_007198.4:c.241A>G MANE Select NP_009129.1:p.Lys81Glu
NM_001349346.2:c.241A>G NP_001336275.1:p.Lys81Glu
NM_001349347.2:c.235A>G NP_001336276.1:p.Lys79Glu
NM_001349348.2:c.85A>G NP_001336277.1:p.Lys29Glu