Transcript #00002581

Transcript name calsequestrin 1 (fast-twitch, skeletal muscle)
Gene name CASQ1 (calsequestrin 1 (fast-twitch, skeletal muscle))
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

93 entries on 1 page. Showing entries 1 - 93.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.21G>A r.(?) p.(Met7Ile)
?/? c.27C>A r.(=) p.(=)
?/? c.30A>G r.(=) p.(=)
?/? c.39G>A r.(=) p.(=)
?/? c.46C>T r.(?) p.(Arg16Trp)
?/? c.74T>C r.(?) p.(Leu25Pro)
?/? c.112C>T r.(=) p.(=)
?/? c.130G>A r.(?) p.(Asp44Asn)
?/? c.134G>T r.(?) p.(Gly45Val)
?/? c.143G>A r.(?) p.(Arg48His)
?/? c.160G>A r.(?) p.(Ala54Thr)
?/? c.215A>G r.(?) p.(His72Arg)
?/? c.225C>T r.(=) p.(=)
?/? c.226G>A r.(?) p.(Glu76Lys)
?/? c.237G>A r.(=) p.(=)
?/? c.260T>C r.(?) p.(Met87Thr)
?/? c.279+45C>T r.(=) p.(=)
?/? c.279+48C>T r.(=) p.(=)
?/? c.280-51_280-50insATCC r.(=) p.(=)
?/? c.280-35C>G r.(=) p.(=)
?/? c.280-31G>C r.(=) p.(=)
?/? c.280-20A>G r.(=) p.(=)
?/? c.280-13T>C r.(=) p.(=)
?/? c.280-1G>C r.spl? p.?
?/? c.319G>A r.(?) p.(Gly107Arg)
?/? c.364+5G>C r.spl? p.?
?/? c.364+9G>T r.(=) p.(=)
?/? c.365-28C>T r.(=) p.(=)
?/? c.365-27C>T r.(=) p.(=)
?/? c.365-11T>A r.(=) p.(=)
?/? c.365-10C>T r.(=) p.(=)
?/? c.419A>T r.(?) p.(Tyr140Phe)
?/? c.421G>A r.(?) p.(Asp141Asn)
?/? c.443C>T r.(?) p.(Thr148Ile)
?/? c.447C>T r.(=) p.(=)
?/? c.451G>T r.(?) p.(Glu151*)
?/? c.453G>T r.(?) p.(Glu151Asp)
?/? c.465+32T>C r.(=) p.(=)
?/? c.466-18A>G r.(=) p.(=)
?/? c.491T>C r.(?) p.(Ile164Thr)
?/? c.516G>A r.(=) p.(=)
?/? c.548T>C r.(?) p.(Ile183Thr)
?/? c.570C>T r.(=) p.(=)
?/? c.577+13C>T r.(=) p.(=)
?/? c.578-52del r.(=) p.(=)
?/? c.578-49G>A r.(=) p.(=)
?/? c.578-5C>G r.spl? p.?
?/? c.578-3C>G r.spl? p.?
?/? c.581A>G r.(?) p.(Tyr194Cys)
?/? c.589T>C r.(?) p.(Phe197Leu)
?/? c.591C>T r.(=) p.(=)
?/? c.592G>A r.(?) p.(Glu198Lys)
?/? c.651+9C>A r.(=) p.(=)
?/? c.651+21A>G r.(=) p.(=)
?/? c.651+35A>C r.(=) p.(=)
?/? c.652-28C>A r.(=) p.(=)
?/? c.652-23C>G r.(=) p.(=)
?/? c.652-17T>A r.(=) p.(=)
?/? c.652-15C>T r.(=) p.(=)
?/? c.657A>G r.(=) p.(=)
?/? c.660G>T r.(?) p.(Lys220Asn)
?/? c.726C>A r.(=) p.(=)
?/? c.744C>T r.(=) p.(=)
?/? c.782+28G>A r.(=) p.(=)
?/? c.782+33C>T r.(=) p.(=)
?/? c.782+34G>A r.(=) p.(=)
?/? c.782+40T>G r.(=) p.(=)
?/? c.783-50G>T r.(=) p.(=)
?/? c.783-45T>A r.(=) p.(=)
?/? c.828+16C>T r.(=) p.(=)
?/? c.828+54_828+55insTCAAG r.(=) p.(=)
?/? c.854T>C r.(?) p.(Ile285Thr)
?/? c.883+17G>A r.(=) p.(=)
?/? c.883+39G>C r.(=) p.(=)
?/? c.884-25A>G r.(=) p.(=)
?/? c.891C>T r.(=) p.(=)
?/? c.913G>A r.(?) p.(Ala305Thr)
?/? c.985-50C>T r.(=) p.(=)
?/? c.994T>C r.(?) p.(Tyr332His)
?/? c.1008G>A r.(=) p.(=)
?/? c.1059T>C r.(=) p.(=)
?/? c.1059+58G>A r.(=) p.(=)
?/? c.1060-43C>T r.(=) p.(=)
?/? c.1060-25C>T r.(=) p.(=)
?/? c.1060-17C>A r.(=) p.(=)
?/? c.1061C>T r.(?) p.(Ala354Val)
?/? c.1078G>T r.(?) p.(Glu360*)
?/? c.1083G>A r.(?) p.(Met361Ile)
?/? c.1110T>C r.(=) p.(=)
?/? c.1154T>C r.(?) p.(Ile385Thr)
?/? c.1174_1179del r.(?) p.(Asp395*)
?/? c.1185T>C r.(=) p.(=)
?/? c.*8G>A r.(=) p.(=)
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