Canonical Allele Identifier: CA357008025

Gene: REST

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.56930934G>C , CM000666.2:g.56930934G>C	GRCh38
NC_000004.11:g.57797100G>C , CM000666.1:g.57797100G>C	GRCh37
NC_000004.10:g.57491857G>C	NCBI36
NG_029447.1:g.28059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309042.12:c.2076G>C MANE Select	ENSP00000311816.7:p.Glu692Asp
ENST00000514063.2:c.*1103G>C	ENSP00000501649.1:n.*1103G>C
ENST00000611211.2:c.*79-1134G>C	ENSP00000479151.2:n.*79-1134G>C
ENST00000616975.5:c.*1103G>C	ENSP00000484058.1:n.*1103G>C
ENST00000619101.5:c.*1103G>C	ENSP00000484836.2:n.*1103G>C
ENST00000638187.2:c.1992G>C	ENSP00000492006.2:p.Glu664Asp
ENST00000640168.2:c.898+19398G>C	ENSP00000490969.1:n.898+19398G>C
ENST00000640343.2:c.982+11064G>C	ENSP00000492813.1:n.982+11064G>C
ENST00000675105.1:c.2076G>C	ENSP00000502313.1:p.Glu692Asp
ENST00000675341.1:c.1629G>C	ENSP00000502488.1:p.Glu543Asp
ENST00000309042.11:c.2076G>C	ENSP00000311816.7:p.Glu692Asp
ENST00000619101.4:c.2076G>C	ENSP00000484836.1:p.Glu692Asp
ENST00000622863.4:c.587-860G>C	ENSP00000481650.1:n.587-860G>C
NM_001193508.1:c.2076G>C	NP_001180437.1:p.Glu692Asp
NM_005612.4:c.2076G>C	NP_005603.3:p.Glu692Asp
XM_005265760.2:c.1110G>C	XP_005265817.1:p.Glu370Asp
XM_011534401.1:c.2076G>C	XP_011532703.1:p.Glu692Asp
XM_011534402.1:c.1098G>C	XP_011532704.1:p.Glu366Asp
NM_001363453.1:c.2076G>C	NP_001350382.1:p.Glu692Asp
XM_017008527.1:c.1992G>C	XP_016864016.1:p.Glu664Asp
NM_005612.5:c.2076G>C MANE Select	NP_005603.3:p.Glu692Asp
NM_001363453.2:c.2076G>C	NP_001350382.1:p.Glu692Asp