Transcript #00001432

Transcript name transcript variant 1
Gene name BACH1 (BTB and CNC homology 1, basic leucine zipper transcription factor 1)
Chromosome 21
Transcript - NCBI ID NM_206866.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_996749.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

91 entries on 1 page. Showing entries 1 - 91.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-29G>A r.(=) p.(=)
?/? c.-21C>T r.(=) p.(=)
?/? c.-6T>C r.(=) p.(=)
?/? c.11G>A r.(?) p.(Ser4Asn)
?/? c.21G>A r.(=) p.(=)
?/? c.56A>G r.(?) p.(Asn19Ser)
?/? c.78C>T r.(=) p.(=)
?/? c.94G>C r.(?) p.(Val32Leu)
?/? c.112A>G r.(?) p.(Ile38Val)
?/? c.131G>A r.(?) p.(Arg44Gln)
?/? c.146G>T r.(?) p.(Arg49Leu)
?/? c.151G>A r.(?) p.(Val51Met)
?/? c.158C>T r.(?) p.(Ala53Val)
?/? c.159G>A r.(=) p.(=)
?/? c.170G>C r.(?) p.(Ser57Thr)
?/? c.182C>T r.(?) p.(Ser61Leu)
?/? c.204T>A r.(?) p.(Asp68Glu)
?/? c.211C>G r.(?) p.(Leu71Val)
?/? c.234+16T>A r.(=) p.(=)
?/? c.235-34A>G r.(=) p.(=)
?/? c.235-23G>A r.(=) p.(=)
?/? c.306T>C r.(=) p.(=)
?/? c.341G>A r.(?) p.(Ser114Asn)
?/? c.343G>T r.(?) p.(Val115Leu)
?/? c.362C>A r.(?) p.(Ser121Tyr)
?/? c.406G>C r.(?) p.(Asp136His)
?/? c.426del r.(?) p.(Lys144Asnfs*22)
?/? c.434G>T r.(?) p.(Cys145Phe)
?/? c.441A>T r.(=) p.(=)
?/? c.452A>G r.(?) p.(Gln151Arg)
?/? c.474A>G r.(=) p.(=)
?/? c.587C>T r.(?) p.(Ser196Leu)
?/? c.601G>T r.(?) p.(Asp201Tyr)
?/? c.603C>G r.(?) p.(Asp201Glu)
?/? c.618A>T r.(=) p.(=)
?/? c.628A>G r.(?) p.(Met210Val)
?/? c.632G>C r.(?) p.(Cys211Ser)
?/? c.636A>T r.(?) p.(Leu212Phe)
?/? c.725G>A r.(?) p.(Gly242Glu)
?/? c.729A>T r.(?) p.(Glu243Asp)
?/? c.738C>T r.(=) p.(=)
?/? c.802C>T r.(?) p.(Pro268Ser)
?/? c.808T>G r.(?) p.(Cys270Gly)
?/? c.840C>T r.(=) p.(=)
?/? c.853G>A r.(?) p.(Ala285Thr)
?/? c.872C>T r.(?) p.(Thr291Met)
?/? c.873G>A r.(=) p.(=)
?/? c.901A>G r.(?) p.(Thr301Ala)
?/? c.929C>T r.(?) p.(Pro310Leu)
?/? c.940T>C r.(?) p.(Ser314Pro)
?/? c.992A>G r.(?) p.(Gln331Arg)
?/? c.1096G>T r.(?) p.(Asp366Tyr)
?/? c.1162A>G r.(?) p.(Ser388Gly)
?/? c.1172G>A r.(?) p.(Arg391Gln)
?/? c.1212C>T r.(=) p.(=)
?/? c.1223C>T r.(?) p.(Thr408Met)
?/? c.1281G>C r.(?) p.(Gln427His)
?/? c.1318A>G r.(?) p.(Ile440Val)
?/? c.1368A>G r.(=) p.(=)
?/? c.1392A>G r.(?) p.(Ile464Met)
?/? c.1403G>A r.(?) p.(Ser468Asn)
?/? c.1412G>C r.(?) p.(Gly471Ala)
?/? c.1415G>A r.(?) p.(Cys472Tyr)
?/? c.1440C>T r.(=) p.(=)
?/? c.1492A>T r.(?) p.(Ile498Phe)
?/? c.1512T>G r.(=) p.(=)
?/? c.1534A>T r.(?) p.(Ser512Cys)
?/? c.1542C>G r.(=) p.(=)
?/? c.1552A>G r.(?) p.(Arg518Gly)
?/? c.1643A>G r.(?) p.(His548Arg)
?/? c.1724_1725insC r.(?) p.(Lys576Glnfs*5)
?/? c.1777-50G>C r.(=) p.(=)
?/? c.1777-26T>C r.(=) p.(=)
?/? c.1777-20_1777-19del r.(=) p.(=)
?/? c.1816A>G r.(?) p.(Ile606Val)
?/? c.1830G>A r.(=) p.(=)
?/? c.1833T>C r.(=) p.(=)
?/? c.1914C>T r.(=) p.(=)
?/? c.1967A>T r.(?) p.(Asp656Val)
?/? c.1999C>T r.(?) p.(Pro667Ser)
?/? c.2035G>C r.(?) p.(Val679Leu)
?/? c.2052C>T r.(=) p.(=)
?/? c.2076C>T r.(=) p.(=)
?/? c.2081G>A r.(?) p.(Arg694Gln)
?/? c.2087A>G r.(?) p.(Gln696Arg)
?/? c.2114C>A r.(?) p.(Thr705Asn)
?/? c.2115C>T r.(=) p.(=)
?/? c.2135C>T r.(?) p.(Ala712Val)
?/? c.2144G>A r.(?) p.(Cys715Tyr)
?/? c.2146C>T r.(?) p.(Arg716Cys)
?/? c.*51A>C r.(=) p.(=)
Legend