Transcript #00003487

Transcript name transcript variant 1
Gene name CLGN (calmegin)
Chromosome 4
Transcript - NCBI ID NM_004362.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004353.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

122 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.25T>G r.(?) p.(Cys9Gly)
?/? c.27T>A r.(?) p.(Cys9*)
?/? c.82A>G r.(?) p.(Thr28Ala)
?/? c.83C>T r.(?) p.(Thr28Met)
?/? c.84G>A r.(=) p.(=)
?/? c.115G>T r.(?) p.(Asp39Tyr)
?/? c.218+15_218+16insTTCA r.(=) p.(=)
?/? c.219-19T>C r.(=) p.(=)
?/? c.223G>T r.(?) p.(Val75Phe)
?/? c.224T>C r.(?) p.(Val75Ala)
?/? c.269T>C r.(?) p.(Ile90Thr)
?/? c.274G>A r.(?) p.(Asp92Asn)
?/? c.277+25A>G r.(=) p.(=)
?/? c.277+28T>C r.(=) p.(=)
?/? c.277+34G>T r.(=) p.(=)
?/? c.278-43A>G r.(=) p.(=)
?/? c.309C>A r.(?) p.(Asn103Lys)
?/? c.313G>C r.(?) p.(Val105Leu)
?/? c.363A>G r.(=) p.(=)
?/? c.364A>G r.(?) p.(Ile122Val)
?/? c.365T>C r.(?) p.(Ile122Thr)
?/? c.366A>G r.(?) p.(Ile122Met)
?/? c.377T>G r.(?) p.(Leu126*)
?/? c.419+11C>T r.(=) p.(=)
?/? c.419+43A>G r.(=) p.(=)
?/? c.420-49C>T r.(=) p.(=)
?/? c.420-29G>T r.(=) p.(=)
?/? c.420-23C>T r.(=) p.(=)
?/? c.420-22G>A r.(=) p.(=)
?/? c.440A>T r.(?) p.(Asp147Val)
?/? c.459T>C r.(=) p.(=)
?/? c.478G>T r.(?) p.(Ala160Ser)
?/? c.485C>T r.(?) p.(Thr162Ile)
?/? c.501+14A>T r.(=) p.(=)
?/? c.502-52A>G r.(=) p.(=)
?/? c.502-17C>T r.(=) p.(=)
?/? c.502-9T>C r.(=) p.(=)
?/? c.555T>C r.(=) p.(=)
?/? c.616G>A r.(?) p.(Glu206Lys)
?/? c.632A>C r.(?) p.(Lys211Thr)
?/? c.694+1G>T r.spl? p.?
?/? c.694+5_694+6insTATA r.spl? p.?
?/? c.694+19_694+20insCAT r.(=) p.(=)
?/? c.694+35T>C r.(=) p.(=)
?/? c.694+49T>A r.(=) p.(=)
?/? c.695-45G>A r.(=) p.(=)
?/? c.695-9G>A r.(=) p.(=)
?/? c.695-1G>A r.spl? p.?
?/? c.731A>G r.(?) p.(Asp244Gly)
?/? c.737C>G r.(?) p.(Thr246Arg)
?/? c.748A>G r.(?) p.(Lys250Glu)
?/? c.759C>T r.(=) p.(=)
?/? c.795A>G r.(=) p.(=)
?/? c.808C>T r.(?) p.(Pro270Ser)
?/? c.843_844del r.(?) p.(Arg281Serfs*5)
?/? c.868G>A r.(?) p.(Val290Ile)
?/? c.885-29A>T r.(=) p.(=)
?/? c.885G>A r.(?) p.(Trp295*)
?/? c.910G>T r.(?) p.(Glu304*)
?/? c.958A>G r.(?) p.(Lys320Glu)
?/? c.998+2T>G r.spl? p.?
?/? c.998+15T>C r.(=) p.(=)
?/? c.998+26C>T r.(=) p.(=)
?/? c.998+27G>A r.(=) p.(=)
?/? c.998+49C>T r.(=) p.(=)
?/? c.998+50A>G r.(=) p.(=)
?/? c.1010C>T r.(?) p.(Thr337Met)
?/? c.1011G>A r.(=) p.(=)
?/? c.1017A>G r.(=) p.(=)
?/? c.1054C>T r.(?) p.(Arg352Trp)
?/? c.1055G>A r.(?) p.(Arg352Gln)
?/? c.1102T>C r.(?) p.(Tyr368His)
?/? c.1119A>T r.(?) p.(Arg373Ser)
?/? c.1124C>T r.(?) p.(Pro375Leu)
?/? c.1132G>A r.(?) p.(Asp378Asn)
?/? c.1149+10G>A r.(=) p.(=)
?/? c.1150-24T>C r.(=) p.(=)
?/? c.1160G>A r.(?) p.(Ser387Asn)
?/? c.1166G>A r.(?) p.(Arg389Gln)
?/? c.1171A>G r.(?) p.(Ile391Val)
?/? c.1193A>C r.(?) p.(Glu398Ala)
?/? c.1196A>G r.(?) p.(Asp399Gly)
?/? c.1234G>T r.(?) p.(Gly412Cys)
?/? c.1249T>C r.(?) p.(Ser417Pro)
?/? c.1260T>C r.(=) p.(=)
?/? c.1292C>T r.(?) p.(Ser431Leu)
?/? c.1293G>A r.(=) p.(=)
?/? c.1335A>G r.(=) p.(=)
?/? c.1336T>C r.(?) p.(Trp446Arg)
?/? c.1365+23T>C r.(=) p.(=)
?/? c.1365+34C>A r.(=) p.(=)
?/? c.1365+45A>T r.(=) p.(=)
?/? c.1366-9C>T r.(=) p.(=)
?/? c.1366-8G>A r.(=) p.(=)
?/? c.1435A>T r.(?) p.(Thr479Ser)
?/? c.1436C>G r.(?) p.(Thr479Arg)
?/? c.1491+25C>T r.(=) p.(=)
?/? c.1491+31_1491+32insT r.(=) p.(=)
?/? c.1492-51T>C r.(=) p.(=)
?/? c.1492-15T>C r.(=) p.(=)
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