Canonical Allele Identifier: CA2932453
Community Standard Title: NM_005612.5(REST):c.2307A>G (p.Ile769Met)
Gene: REST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56931165A>G , CM000666.2:g.56931165A>G GRCh38
NC_000004.11:g.57797331A>G , CM000666.1:g.57797331A>G GRCh37
NC_000004.10:g.57492088A>G NCBI36
NG_029447.1:g.28290A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005612.5:c.2307A>G MANE Select NP_005603.3:p.Ile769Met
ENST00000309042.12:c.2307A>G MANE Select ENSP00000311816.7:p.Ile769Met
NM_001193508.1:c.2307A>G NP_001180437.1:p.Ile769Met
NM_001363453.1:c.2307A>G NP_001350382.1:p.Ile769Met
NM_001363453.2:c.2307A>G NP_001350382.1:p.Ile769Met
NM_005612.4:c.2307A>G NP_005603.3:p.Ile769Met
ENST00000309042.11:c.2307A>G ENSP00000311816.7:p.Ile769Met
ENST00000514063.2:c.*1334A>G ENSP00000501649.1:n.*1334A>G
ENST00000611211.2:c.*79-903A>G ENSP00000479151.2:n.*79-903A>G
ENST00000616975.5:c.*1334A>G ENSP00000484058.1:n.*1334A>G
ENST00000619101.4:c.2307A>G ENSP00000484836.1:p.Ile769Met
ENST00000619101.5:c.*1334A>G ENSP00000484836.2:n.*1334A>G
ENST00000622863.4:c.587-629A>G ENSP00000481650.1:n.587-629A>G
ENST00000638187.2:c.2223A>G ENSP00000492006.2:p.Ile741Met
ENST00000640168.2:c.898+19629A>G ENSP00000490969.1:n.898+19629A>G
ENST00000640343.2:c.982+11295A>G ENSP00000492813.1:n.982+11295A>G
ENST00000675105.1:c.2307A>G ENSP00000502313.1:p.Ile769Met
ENST00000675341.1:c.1860A>G ENSP00000502488.1:p.Ile620Met
XM_005265760.2:c.1341A>G XP_005265817.1:p.Ile447Met
XM_011534401.1:c.2307A>G XP_011532703.1:p.Ile769Met
XM_011534402.1:c.1329A>G XP_011532704.1:p.Ile443Met
XM_017008527.1:c.2223A>G XP_016864016.1:p.Ile741Met