Canonical Allele Identifier: CA16043940
Gene: PLPBP HGNC NCBI

Linked Data

ClinVar Variation Id: 374852
dbSNP Id: rs1057519273
gnomAD v4: 8-37765736-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765736C>G , CM000670.2:g.37765736C>G GRCh38
NC_000008.10:g.37623254C>G , CM000670.1:g.37623254C>G GRCh37
NC_000008.9:g.37742412C>G NCBI36
NG_053030.1:g.8984C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328195.8:c.233C>G MANE Select ENSP00000333551.3:p.Ser78Ter
ENST00000328195.7:c.233C>G ENSP00000333551.3:p.Ser78Ter
ENST00000518036.5:c.*85C>G ENSP00000428005.1:n.*85C>G
ENST00000520073.5:n.298C>G
ENST00000523187.5:c.77C>G ENSP00000427886.1:p.Ser26Ter
ENST00000523358.5:c.233C>G ENSP00000427778.1:p.Ser78Ter
ENST00000523994.1:n.238C>G
NM_007198.3:c.233C>G NP_009129.1:p.Ser78Ter
NM_001349346.1:c.233C>G NP_001336275.1:p.Ser78Ter
NM_001349347.1:c.227C>G NP_001336276.1:p.Ser76Ter
NM_001349348.1:c.77C>G NP_001336277.1:p.Ser26Ter
NM_001349349.1:c.338C>G NP_001336278.1:p.Ser113Ter
NM_007198.4:c.233C>G MANE Select NP_009129.1:p.Ser78Ter
NM_001349346.2:c.233C>G NP_001336275.1:p.Ser78Ter
NM_001349347.2:c.227C>G NP_001336276.1:p.Ser76Ter
NM_001349348.2:c.77C>G NP_001336277.1:p.Ser26Ter