Canonical Allele Identifier: CA357008355

Gene: REST

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.56931087G>T , CM000666.2:g.56931087G>T	GRCh38
NC_000004.11:g.57797253G>T , CM000666.1:g.57797253G>T	GRCh37
NC_000004.10:g.57492010G>T	NCBI36
NG_029447.1:g.28212G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309042.12:c.2229G>T MANE Select	ENSP00000311816.7:p.Glu743Asp
ENST00000514063.2:c.*1256G>T	ENSP00000501649.1:n.*1256G>T
ENST00000611211.2:c.*79-981G>T	ENSP00000479151.2:n.*79-981G>T
ENST00000616975.5:c.*1256G>T	ENSP00000484058.1:n.*1256G>T
ENST00000619101.5:c.*1256G>T	ENSP00000484836.2:n.*1256G>T
ENST00000638187.2:c.2145G>T	ENSP00000492006.2:p.Glu715Asp
ENST00000640168.2:c.898+19551G>T	ENSP00000490969.1:n.898+19551G>T
ENST00000640343.2:c.982+11217G>T	ENSP00000492813.1:n.982+11217G>T
ENST00000675105.1:c.2229G>T	ENSP00000502313.1:p.Glu743Asp
ENST00000675341.1:c.1782G>T	ENSP00000502488.1:p.Glu594Asp
ENST00000309042.11:c.2229G>T	ENSP00000311816.7:p.Glu743Asp
ENST00000619101.4:c.2229G>T	ENSP00000484836.1:p.Glu743Asp
ENST00000622863.4:c.587-707G>T	ENSP00000481650.1:n.587-707G>T
NM_001193508.1:c.2229G>T	NP_001180437.1:p.Glu743Asp
NM_005612.4:c.2229G>T	NP_005603.3:p.Glu743Asp
XM_005265760.2:c.1263G>T	XP_005265817.1:p.Glu421Asp
XM_011534401.1:c.2229G>T	XP_011532703.1:p.Glu743Asp
XM_011534402.1:c.1251G>T	XP_011532704.1:p.Glu417Asp
NM_001363453.1:c.2229G>T	NP_001350382.1:p.Glu743Asp
XM_017008527.1:c.2145G>T	XP_016864016.1:p.Glu715Asp
NM_005612.5:c.2229G>T MANE Select	NP_005603.3:p.Glu743Asp
NM_001363453.2:c.2229G>T	NP_001350382.1:p.Glu743Asp