Canonical Allele Identifier: CA2932545
Community Standard Title: NM_005612.5(REST):c.2741A>G (p.Asn914Ser)
Gene: REST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56931599A>G , CM000666.2:g.56931599A>G GRCh38
NC_000004.11:g.57797765A>G , CM000666.1:g.57797765A>G GRCh37
NC_000004.10:g.57492522A>G NCBI36
NG_029447.1:g.28724A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005612.5:c.2741A>G MANE Select NP_005603.3:p.Asn914Ser
ENST00000309042.12:c.2741A>G MANE Select ENSP00000311816.7:p.Asn914Ser
NM_001193508.1:c.2741A>G NP_001180437.1:p.Asn914Ser
NM_001363453.1:c.2741A>G NP_001350382.1:p.Asn914Ser
NM_001363453.2:c.2741A>G NP_001350382.1:p.Asn914Ser
NM_005612.4:c.2741A>G NP_005603.3:p.Asn914Ser
ENST00000309042.11:c.2741A>G ENSP00000311816.7:p.Asn914Ser
ENST00000514063.2:c.*1768A>G ENSP00000501649.1:n.*1768A>G
ENST00000611211.2:c.*79-469A>G ENSP00000479151.2:n.*79-469A>G
ENST00000616975.5:c.*1768A>G ENSP00000484058.1:n.*1768A>G
ENST00000619101.4:c.2741A>G ENSP00000484836.1:p.Asn914Ser
ENST00000619101.5:c.*1768A>G ENSP00000484836.2:n.*1768A>G
ENST00000622863.4:c.587-195A>G ENSP00000481650.1:n.587-195A>G
ENST00000638187.2:c.2657A>G ENSP00000492006.2:p.Asn886Ser
ENST00000640168.2:c.898+20063A>G ENSP00000490969.1:n.898+20063A>G
ENST00000640343.2:c.982+11729A>G ENSP00000492813.1:n.982+11729A>G
ENST00000675105.1:c.2741A>G ENSP00000502313.1:p.Asn914Ser
ENST00000675341.1:c.2294A>G ENSP00000502488.1:p.Asn765Ser
XM_005265760.2:c.1775A>G XP_005265817.1:p.Asn592Ser
XM_011534401.1:c.2741A>G XP_011532703.1:p.Asn914Ser
XM_011534402.1:c.1763A>G XP_011532704.1:p.Asn588Ser
XM_017008527.1:c.2657A>G XP_016864016.1:p.Asn886Ser