Transcript #00020233

Transcript name phosphorylase kinase, alpha 1 (muscle), transcript variant 2
Gene name PHKA1 (phosphorylase kinase regulatory subunit alpha 1)
Chromosome X
Transcript - NCBI ID NM_001122670.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116142.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

50 entries on 1 page. Showing entries 1 - 50.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.78+82G>A r.(=) p.(=)
./. - c.78+89C>T r.(=) p.(=)
./. - c.78+97T>C r.(=) p.(=)
./. - c.78+101_78+106del r.(=) p.(=)
./. - c.78+101_78+108del r.(=) p.(=)
./. - c.78+103del r.(=) p.(=)
./. - c.78+103T>G r.(=) p.(=)
./. - c.78+103_78+105del r.(=) p.(=)
./. - c.78+107del r.(=) p.(=)
./. - c.78+124_78+125insGGTG r.(=) p.(=)
./. - c.78+129_78+130del r.(=) p.(=)
./. - c.78+129_78+130dup r.(=) p.(=)
./. - c.78+129_78+132del r.(=) p.(=)
./. - c.78+129_78+134del r.(=) p.(=)
./. - c.78+129_78+136del r.(=) p.(=)
./. - c.78+129_78+138del r.(=) p.(=)
./. - c.78+133T>A r.(=) p.(=)
./. - c.286-47G>A r.(=) p.(=)
./. - c.429C>T r.(=) p.(=)
./. - c.538-112_538-111del r.(=) p.(=)
./. - c.538-112_538-111dup r.(=) p.(=)
./. - c.538-25T>C r.(=) p.(=)
./. - c.717+103T>C r.(=) p.(=)
./. - c.865-100A>G r.(=) p.(=)
./. - c.919-79A>G r.(=) p.(=)
./. - c.1245+19G>C r.(=) p.(=)
./. - c.1459+137A>G r.(=) p.(=)
./. - c.1460-69_1460-68del r.(=) p.(=)
./. - c.1460-62A>C r.(=) p.(=)
./. - c.1460-23A>T r.(=) p.(=)
./. - c.1570-73A>G r.(=) p.(=)
./. - c.1715-127A>G r.(=) p.(=)
./. - c.1715-93C>T r.(=) p.(=)
./. - c.1715-51A>G r.(=) p.(=)
./. - c.1715-35C>T r.(=) p.(=)
./. - c.1760G>A r.(?) p.(Arg587Gln)
./. - c.1794-67C>G r.(=) p.(=)
./. - c.2160G>A r.(=) p.(=)
./. - c.2229+24C>T r.(=) p.(=)
./. - c.2462G>A r.(?) p.(Arg821His)
./. - c.2526+74T>G r.(=) p.(=)
./. - c.2606+101T>G r.(=) p.(=)
./. - c.2780T>C r.(?) p.(Met927Thr)
./. - c.2816-124T>C r.(=) p.(=)
./. - c.3033+2317T>C r.(=) p.(=)
./. - c.3033+2437del r.(=) p.(=)
./. - c.3034-68_3034-67insA r.(=) p.(=)
./. - c.3460-114C>G r.(=) p.(=)
./. - c.3460-67del r.(=) p.(=)
./. - c.3460-30del r.(=) p.(=)
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