Transcript #00024119

Transcript name transcript variant novex-3
Gene name TTN (titin)
Chromosome 2
Transcript - NCBI ID NM_133379.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_596870.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

747 entries on 8 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
./. - c.33G>A - r.(=) p.(=)
./. - c.33G>A - r.(=) p.(=)
./. - c.92-21T>C - r.(=) p.(=)
./. - c.156C>T - r.(=) p.(=)
./. - c.178G>T - r.(?) p.(Asp60Tyr)
./. - c.178G>T - r.(?) p.(Asp60Tyr)
./. - c.178G>T - r.(?) p.(Asp60Tyr)
./. - c.180T>C - r.(=) p.(=)
./. - c.180T>C - r.(=) p.(=)
./. - c.261del - r.(?) p.(Gln88Lysfs*10)
./. - c.289G>A - r.(?) p.(Val97Met)
./. - c.296-14T>C - r.(=) p.(=)
./. - c.296-14T>C - r.(=) p.(=)
./. - c.296-14T>C - r.(=) p.(=)
./. - c.296-14T>C - r.(=) p.(=)
./. - c.343G>A - r.(?) p.(Val115Met)
./. - c.426C>T - r.(=) p.(=)
./. - c.426C>T - r.(=) p.(=)
./. - c.426C>T - r.(=) p.(=)
./. - c.437G>A - r.(?) p.(Ser146Asn)
./. - c.516G>A - r.(=) p.(=)
./. - c.542G>A - r.(?) p.(Ser181Asn)
./. - c.542G>A - r.(?) p.(Ser181Asn)
./. - c.542G>A - r.(?) p.(Ser181Asn)
./. - c.583+15T>C - r.(=) p.(=)
./. - c.583+17G>C - r.(=) p.(=)
./. - c.593_595del - r.(?) p.(Glu198del)
./. - c.617C>A - r.(?) p.(Thr206Lys)
./. - c.617C>A - r.(?) p.(Thr206Lys)
./. - c.654A>G - r.(=) p.(=)
./. - c.654_655delinsG - r.(?) p.(Thr219Profs*23)
./. - c.659G>A - r.(?) p.(Arg220Gln)
./. - c.680C>T - r.(?) p.(Ala227Val)
./. - c.687T>C - r.(=) p.(=)
./. - c.687T>C - r.(=) p.(=)
./. - c.752A>G - r.(?) p.(His251Arg)
./. - c.776C>T - r.(?) p.(Pro259Leu)
./. - c.777G>A - r.(=) p.(=)
./. - c.835C>T - r.(?) p.(Arg279Trp)
./. - c.835C>T - r.(?) p.(Arg279Trp)
./. - c.910G>A - r.(?) p.(Val304Ile)
./. - c.970C>T - r.(?) p.(Pro324Ser)
./. - c.970C>T - r.(?) p.(Pro324Ser)
./. - c.997T>A - r.(?) p.(Ser333Thr)
./. - c.1003G>A - r.(?) p.(Val335Met)
./. - c.1003G>A - r.(?) p.(Val335Met)
./. - c.1050C>T - r.(=) p.(=)
./. - c.1050C>T - r.(=) p.(=)
./. - c.1068G>A - r.(=) p.(=)
./. - c.1089G>A - r.(=) p.(=)
./. - c.1089G>A - r.(=) p.(=)
./. - c.1099T>C - r.(?) p.(Ser367Pro)
./. - c.1168G>A - r.(?) p.(Gly390Ser)
./. - c.1182_1185inv - r.(=) p.(=)
./. - c.1213G>A - r.(?) p.(Ala405Thr)
./. - c.1245+3A>G - r.spl? p.?
./. - c.1245+20G>T - r.(=) p.(=)
./. - c.1245+20G>T - r.(=) p.(=)
./. - c.1246-16G>A - r.(=) p.(=)
./. - c.1246-16G>A - r.(=) p.(=)
./. - c.1246-16G>A - r.(=) p.(=)
./. - c.1246-16G>A - r.(=) p.(=)
./. - c.1292C>T - r.(?) p.(Ala431Val)
./. - c.1297G>A - r.(?) p.(Val433Ile)
./. - c.1297G>A - r.(?) p.(Val433Ile)
./. - c.1324G>A - r.(?) p.(Val442Met)
./. - c.1333G>A - r.(?) p.(Ala445Thr)
./. - c.1333G>A - r.(?) p.(Ala445Thr)
./. - c.1365G>A - r.(=) p.(=)
./. - c.1398+8C>T - r.(=) p.(=)
./. - c.1398+8C>T - r.(=) p.(=)
./. - c.1398+16C>T - r.(=) p.(=)
./. - c.1398+16C>T - r.(=) p.(=)
./. - c.1398+16C>T - r.(=) p.(=)
./. - c.1413G>A - r.(=) p.(=)
./. - c.1419G>A - r.(=) p.(=)
./. - c.1426G>A - r.(?) p.(Val476Ile)
./. - c.1442T>A - r.(?) p.(Val481Glu)
./. - c.1447G>A - r.(?) p.(Ala483Thr)
./. - c.1449C>T - r.(=) p.(=)
./. - c.1492G>A - r.(?) p.(Val498Ile)
./. - c.1492G>A - r.(?) p.(Val498Ile)
./. - c.1492G>A - r.(?) p.(Val498Ile)
./. - c.1492G>A - r.(?) p.(Val498Ile)
./. - c.1492G>A - r.(?) p.(Val498Ile)
./. - c.1537-4G>A - r.spl? p.?
./. - c.1537-4G>A - r.spl? p.?
./. - c.1560A>G - r.(=) p.(=)
./. - c.1560A>G - r.(=) p.(=)
./. - c.1690G>A - r.(?) p.(Ala564Thr)
./. - c.1709C>T - r.(?) p.(Ala570Val)
./. - c.1727_1731del - r.(?) p.(Lys576Argfs*22)
./. - c.1800+1G>A - r.spl? p.?
./. - c.1815T>C - r.(=) p.(=)
./. - c.1822A>G - r.(?) p.(Thr608Ala)
./. - c.1854C>G - r.(=) p.(=)
./. - c.1920G>A - r.(=) p.(=)
./. - c.1920G>A - r.(=) p.(=)
./. - c.1938+10G>C - r.(=) p.(=)
./. - c.1938+10G>C - r.(=) p.(=)
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