Transcript #00020250 (NM_003126.2, SPTA1 gene)

Transcript name spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
Gene name SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2))
Chromosome 1
Transcript - NCBI ID NM_003126.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003117.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

219 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-126del r.(?) p.(=)
-?/. - c.-126T>C r.(?) p.(=)
-/. - c.-62A>C r.(?) p.(=)
-/. - c.-60T>C r.(?) p.(=)
-/. - c.-48_-41dup r.(?) p.(=)
-/. - c.-44_-41dup r.(?) p.(=)
-/. - c.-42_-41dup r.(?) p.(=)
-?/. - c.23C>T r.(?) p.(Thr8Ile)
-/. - c.24+3A>G r.spl? p.?
-/. - c.24+3A>G r.spl? p.?
-/. - c.24+27A>G r.(=) p.(=)
-/. - c.24+132_24+137del r.(=) p.(=)
-/. - c.25-178A>T r.(=) p.(=)
-/. - c.25-25G>T r.(=) p.(=)
-?/. - c.33G>C r.(?) p.(Glu11Asp)
+/. - c.82C>A r.(?) p.(Arg28Ser)
+/. - c.82C>G r.(?) p.(Arg28Gly)
+/. - c.83G>A r.(?) p.(Arg28His)
+/. - c.100C>T r.(?) p.(Arg34Trp)
+/. - c.101G>C r.(?) p.(Arg34Pro)
-?/. - c.121C>A r.(?) p.(Arg41=)
-/. - c.126C>T r.(?) p.(Val42=)
-/. - c.126C>T r.(?) p.(Val42=)
+/. - c.134G>C r.(?) p.(Arg45Thr)
-/. - c.264+46T>C r.(=) p.(=)
-/. - c.264+112G>A r.(=) p.(=)
-/. - c.264+239C>T r.(=) p.(=)
-/. - c.264+240A>G r.(=) p.(=)
-/. - c.265-24A>C r.(=) p.(=)
+/. - c.352C>T r.(?) p.(Arg118*)
?/. - c.373G>A r.(?) p.(Ala125Thr)
+/. - c.452G>A r.(?) p.(Gly151Asp)
+/. - c.678G>A r.(?) p.(Glu226=)
-/. - c.679-166A>G r.(=) p.(=)
+/. - c.779T>C r.(?) p.(Leu260Pro)
-/. - c.793A>G r.(?) p.(Asn265Asp)
-/. - c.798A>G r.(?) p.(Leu266=)
-/. - c.812+86T>G r.(=) p.(=)
-/. - c.812+183G>T r.(=) p.(=)
-/. - c.813-105T>C r.(=) p.(=)
-/. - c.813-45A>G r.(=) p.(=)
-/. - c.813-7A>T r.(=) p.(=)
-/. - c.813-7A>T r.(=) p.(=)
-/. - c.915T>C r.(?) p.(Ser305=)
-/. - c.915T>C r.(?) p.(Ser305=)
?/. - c.917A>C r.(?) p.(His306Pro)
-/. - c.942T>A r.(?) p.(Ala314=)
-/. - c.942T>A r.(?) p.(Ala314=)
-/. - c.957+168T>C r.(=) p.(=)
-/. - c.958-138A>G r.(=) p.(=)
-?/. - c.1078A>T r.(?) p.(Thr360Ser)
-/. - c.1112+169T>C r.(=) p.(=)
-?/. - c.1161C>T r.(?) p.(Asn387=)
-/. - c.1248+36C>A r.(=) p.(=)
-/. - c.1350+14A>T r.(=) p.(=)
-/. - c.1350+14A>T r.(=) p.(=)
-?/. - c.1351-4A>G r.spl? p.?
-/. - c.1489-198A>G r.(=) p.(=)
-/. - c.1489-41C>A r.(=) p.(=)
-/. - c.1600-25T>C r.(=) p.(=)
-/. - c.1600-10A>G r.(=) p.(=)
-/. - c.1677+60G>T r.(=) p.(=)
-?/. - c.1703G>A r.(?) p.(Arg568His)
-/. - c.1833+92C>T r.(=) p.(=)
-/. - c.1833+169T>C r.(=) p.(=)
-/. - c.1834-16_1834-14del r.(=) p.(=)
-/. - c.1834-15_1834-14del r.(=) p.(=)
-/. - c.1834-14del r.(=) p.(=)
-/. - c.1834-14dup r.(=) p.(=)
+/. - c.1850dup r.(?) p.(Ser618GlufsTer10)
-/. - c.1958A>G r.(?) p.(Tyr653Cys)
-?/. - c.1958A>G r.(?) p.(Tyr653Cys)
?/. - c.1958A>G r.(?) p.(Tyr653Cys)
+/. - c.1959T>A r.(?) p.(Tyr653Ter)
-?/. - c.1982G>A r.(?) p.(Arg661His)
-/. - c.1982G>A r.(?) p.(Arg661His)
?/. - c.2093A>T r.(?) p.(Asp698Val)
-/. - c.2102G>A r.(?) p.(Arg701His)
-/. - c.2221-184T>C r.(=) p.(=)
-/. - c.2221-24G>A r.(=) p.(=)
-/. - c.2353C>A r.(?) p.(Arg785=)
+/. - c.2353C>T r.(?) p.(Arg785Ter)
+/. - c.2373C>A r.(?) p.(Asp791Glu)
-/. - c.2418G>A r.(?) p.(Glu806=)
-/. - c.2465-58G>A r.(=) p.(=)
-?/. - c.2493T>C r.(?) p.(Leu831=)
-/. - c.2493T>G r.(?) p.(Leu831=)
-/. - c.2493T>G r.(?) p.(Leu831=)
-?/. - c.2520G>C r.(?) p.(Glu840Asp)
?/. - c.2542C>T r.(?) p.(Arg848Cys)
-?/. - c.2588-4A>G r.spl? p.?
-?/. - c.2588-3T>C r.spl? p.?
?/. - c.2600C>A r.(?) p.(Ala867Glu)
+/. - c.2755G>T r.(?) p.(Glu919Ter)
-?/. - c.2805+7T>G r.(=) p.(=)
-/. - c.2806-144T>C r.(=) p.(=)
+/. - c.2806-13T>G r.(=) p.(=)
-/. - c.2874G>A r.(?) p.(Leu958=)
-/. - c.2874G>A r.(?) p.(Leu958=)
-/. - c.2898+53G>T r.(=) p.(=)
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