Transcript #00001359

Transcript name calsequestrin 1 (fast-twitch, skeletal muscle)
Gene name CASQ1 (calsequestrin 1)
Chromosome 1
Transcript - NCBI ID NM_001231.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001222.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

51 entries on 1 page. Showing entries 1 - 51.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-84T>G r.(=) p.(=)
./. - c.215A>G r.(?) p.(His72Arg)
./. - c.237G>A r.(=) p.(=)
./. - c.260T>C r.(?) p.(Met87Thr)
./. - c.279+45C>T r.(=) p.(=)
./. - c.279+75G>C r.(=) p.(=)
./. - c.280-85C>A r.(=) p.(=)
./. - c.280-1G>C r.spl? p.?
./. - c.364+9G>T r.(=) p.(=)
./. - c.365-91C>T r.(=) p.(=)
./. - c.365-88G>C r.(=) p.(=)
./. - c.365-39_365-15del r.(=) p.(=)
./. - c.365-28C>T r.(=) p.(=)
./. - c.419A>T r.(?) p.(Tyr140Phe)
./. - c.441C>T r.(=) p.(=)
./. - c.447C>T r.(=) p.(=)
./. - c.448G>T r.(?) p.(Val150Leu)
./. - c.465+139A>C r.(=) p.(=)
./. - c.465+145C>T r.(=) p.(=)
./. - c.466-145C>A r.(=) p.(=)
./. - c.466-134T>C r.(=) p.(=)
./. - c.466-43T>C r.(=) p.(=)
./. - c.578-156A>C r.(=) p.(=)
./. - c.578-135C>T r.(=) p.(=)
./. - c.578-5C>G r.spl? p.?
./. - c.651+118_651+119insC r.(=) p.(=)
./. - c.651+118_651+119insCC r.(=) p.(=)
./. - c.651+120C>T r.(=) p.(=)
./. - c.651+123_651+124insG r.(=) p.(=)
./. - c.651+125C>A r.(=) p.(=)
./. - c.651+125C>G r.(=) p.(=)
./. - c.651+125_651+126insA r.(=) p.(=)
./. - c.651+127C>T r.(=) p.(=)
./. - c.652-126_652-125del r.(=) p.(=)
./. - c.652-115T>A r.(=) p.(=)
./. - c.652-102G>A r.(=) p.(=)
./. - c.652-15C>T r.(=) p.(=)
./. - c.782+34G>A r.(=) p.(=)
./. - c.783-133C>A r.(=) p.(=)
./. - c.783-45T>A r.(=) p.(=)
./. - c.828+132T>C r.(=) p.(=)
./. - c.829-151_829-150insA r.(=) p.(=)
./. - c.829-150A>C r.(=) p.(=)
./. - c.829-99G>A r.(=) p.(=)
./. - c.883+106G>C r.(=) p.(=)
./. - c.913G>A r.(?) p.(Ala305Thr)
./. - c.925G>A r.(?) p.(Asp309Asn)
./. - c.985-168T>C r.(=) p.(=)
./. - c.1059+58G>A r.(=) p.(=)
./. - c.1059+67C>T r.(=) p.(=)
./. - c.1089T>G r.(?) p.(Asp363Glu)
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