Canonical Allele Identifier: CA2932058
Gene: REST HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56910877G>A , CM000666.2:g.56910877G>A GRCh38
NC_000004.11:g.57777043G>A , CM000666.1:g.57777043G>A GRCh37
NC_000004.10:g.57471800G>A NCBI36
NG_029447.1:g.8002G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309042.12:c.239G>A MANE Select ENSP00000311816.7:p.Gly80Glu
ENST00000514063.2:c.239G>A ENSP00000501649.1:p.Gly80Glu
ENST00000611211.2:c.239G>A ENSP00000479151.2:p.Gly80Glu
ENST00000616975.5:c.239G>A ENSP00000484058.1:p.Gly80Glu
ENST00000619101.5:c.239G>A ENSP00000484836.2:p.Gly80Glu
ENST00000638187.2:c.239G>A ENSP00000492006.2:p.Gly80Glu
ENST00000640168.2:c.239G>A ENSP00000490969.1:p.Gly80Glu
ENST00000640343.2:c.239G>A ENSP00000492813.1:p.Gly80Glu
ENST00000675105.1:c.239G>A ENSP00000502313.1:p.Gly80Glu
ENST00000675341.1:c.239G>A ENSP00000502488.1:p.Gly80Glu
ENST00000309042.11:c.239G>A ENSP00000311816.7:p.Gly80Glu
ENST00000511065.5:n.375G>A
ENST00000611211.1:c.239G>A ENSP00000479151.1:p.Gly80Glu
ENST00000612429.4:c.239G>A ENSP00000484206.1:p.Gly80Glu
ENST00000616975.4:c.239G>A ENSP00000484058.1:p.Gly80Glu
ENST00000619101.4:c.239G>A ENSP00000484836.1:p.Gly80Glu
ENST00000622863.4:c.239G>A ENSP00000481650.1:p.Gly80Glu
NM_001193508.1:c.239G>A NP_001180437.1:p.Gly80Glu
NM_005612.4:c.239G>A NP_005603.3:p.Gly80Glu
XM_005265760.2:c.-175+2664G>A XP_005265817.1:n.-175+2664G>A
XM_011534401.1:c.239G>A XP_011532703.1:p.Gly80Glu
NM_001363453.1:c.239G>A NP_001350382.1:p.Gly80Glu
XM_017008527.1:c.239G>A XP_016864016.1:p.Gly80Glu
NM_005612.5:c.239G>A MANE Select NP_005603.3:p.Gly80Glu
NM_001363453.2:c.239G>A NP_001350382.1:p.Gly80Glu