Canonical Allele Identifier: CA1777237087
Gene: PLPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37766103C= , CM000670.2:g.37766103C= GRCh38
NC_000008.10:g.37623621C= , CM000670.1:g.37623621C= GRCh37
NC_000008.9:g.37742779C= NCBI36
NG_053030.1:g.9351C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.244-177C= MANE Select ENSP00000333551.3:n.244-177C=
ENST00000328195.7:c.244-177C= ENSP00000333551.3:n.244-177C=
ENST00000518036.5:c.*96-177C= ENSP00000428005.1:n.*96-177C=
ENST00000520073.5:n.309-177C=
ENST00000523187.5:c.88-177C= ENSP00000427886.1:n.88-177C=
ENST00000523358.5:c.244-177C= ENSP00000427778.1:n.244-177C=
ENST00000523994.1:n.249-177C=
NM_007198.3:c.244-177C= NP_009129.1:n.244-177C=
NM_001349346.1:c.244-177C= NP_001336275.1:n.244-177C=
NM_001349347.1:c.238-177C= NP_001336276.1:n.238-177C=
NM_001349348.1:c.88-177C= NP_001336277.1:n.88-177C=
NM_001349349.1:c.349-177C= NP_001336278.1:n.349-177C=
NM_007198.4:c.244-177C= MANE Select NP_009129.1:n.244-177C=
NM_001349346.2:c.244-177C= NP_001336275.1:n.244-177C=
NM_001349347.2:c.238-177C= NP_001336276.1:n.238-177C=
NM_001349348.2:c.88-177C= NP_001336277.1:n.88-177C=