View transcript #11446

Transcript name glucan (1,4-alpha-), branching enzyme 1
Gene name GBE1 (glucan (1,4-alpha-), branching enzyme 1)
Chromosome 3
Transcript - NCBI ID NM_000158.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000149.3
Protein - Ensembl ID -
Protein - Uniprot ID -


Variants

34 entries on 1 page. Showing entries 1 - 34.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? - c.-35_-34insC r.(=) p.(=)
?/? - c.143+10G>T r.(=) p.(=)
?/? - c.143+10G>T r.(=) p.(=)
?/? - c.143+10G>T r.(=) p.(=)
?/? - c.143+10G>T r.(=) p.(=)
?/? - c.143+10G>T r.(=) p.(=)
?/? - c.143+10G>T r.(=) p.(=)
?/? - c.143+17796C>T r.(=) p.(=)
?/? - c.143+17934A>G r.(=) p.(=)
?/? - c.314-117A>G r.(=) p.(=)
?/? - c.568A>G r.(?) p.(Arg190Gly)
?/? - c.568A>G r.(?) p.(Arg190Gly)
?/? - c.568A>G r.(?) p.(Arg190Gly)
?/? - c.568A>G r.(?) p.(Arg190Gly)
?/? - c.579G>A r.(=) p.(=)
?/? - c.579G>A r.(=) p.(=)
?/? - c.992+77T>G r.(=) p.(=)
?/? - c.993-18313A>T r.(=) p.(=)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1000A>G r.(?) p.(Ile334Val)
?/? - c.1446+102C>T r.(=) p.(=)
?/? - c.1519A>G r.(?) p.(Thr507Ala)
?/? - c.1519A>G r.(?) p.(Thr507Ala)
?/? - c.1934+77del r.(=) p.(=)
?/? - c.2052+51_2052+52insCTT r.(=) p.(=)
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