Transcript #00005471 (NM_001848.2, COL6A1 gene)

Transcript name collagen, type VI, alpha 1
Gene name COL6A1 (collagen, type VI, alpha 1)
Chromosome 21
Transcript - NCBI ID NM_001848.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001839.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

968 entries on 10 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-5C>G r.(?) p.(=)
-/. 1 c.-5C>G r.(?) p.(=)
-/. - c.-5C>G r.(?) p.(=)
-/. - c.-5C>G r.(?) p.(=)
?/. 5' UTR c.-1C>T r.(?) p.(=)
?/. 5' UTR c.-1C>T r.(?) p.(=)
+/. _1_35_ c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_35_ c.(?_-1)_(*1_?)del r.0 p.0
?/. 3 c.? r.(?) p.?
?/. 5i c.? r.(?) p.(?)
?/. 36 c.? r.(?) p.?
?/. 1 c.74C>A r.(?) p.(Thr25Asn)
?/. - c.98-3C>G r.spl? p.?
?/. 1i c.98-3C>G r.spl p.?
+/. - c.98-2A>G r.spl? p.?
+/. 1i_2 c.98-2_103del r.spl p.?
-?/. - c.105C>G r.(?) p.(Pro35=)
?/. 2 c.105C>G r.(?) p.(=)
-?/. - c.105C>G r.(?) p.(Pro35=)
+/. - c.128A>C r.(?) p.(Asp43Ala)
?/. 2 c.138G>C r.(?) p.(Glu46Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. - c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.170C>A r.(?) p.(Ala57Asp)
?/. 2 c.202C>T r.(?) p.(Arg68Cys)
?/. 2 c.202C>T r.(?) p.(Arg68Cys)
?/. 2 c.202C>T r.(?) p.(Arg68Cys)
?/. 2 c.202C>T r.(?) p.(Arg68Cys)
?/. 2 c.202C>T r.(?) p.(Arg68Cys)
?/. 2 c.202C>T r.(?) p.(Arg68Cys)
?/. 2 c.225C>T r.spl p.?
?/. 2 c.226A>C r.(?) p.(=)
-/. 3 c.235C>T r.(?) p.(Arg79Cys)
?/. 3 c.247A>G r.(?) p.(Asn83Asp)
?/. 3 c.262G>A r.(?) p.(Ala88Thr)
?/. 3 c.285C>G r.(?) p.(Asp95Glu)
+?/. 3 c.297del r.(?) p.(Ile100SerfsTer48)
?/. 3 c.311C>T r.(?) p.(Thr104Met)
?/. 3 c.324C>T r.(?) p.(=)
?/. 3 c.324C>T r.(?) p.(=)
?/. 3 c.325G>A r.(?) p.(Gly109Ser)
?/. 3 c.325G>A r.(?) p.(Gly109Ser)
?/. - c.344G>C r.(?) p.(Ser115Thr)
-/. - c.347G>A r.(?) p.(Ser116Asn)
-/. 3 c.347G>A r.(?) p.(Ser116Asn)
-/. 3 c.347G>A r.(?) p.(Ser116Asn)
-/. - c.347G>A r.(?) p.(Ser116Asn)
+?/. 3 c.347G>A r.(?) p.(Ser116Asn)
-/. 3 c.347G>A r.347g>a p.(Ser116Asn)
-/. - c.347G>A r.(?) p.(Ser116Asn)
-/. - c.347G>A r.(?) p.(Ser116Asn)
?/. 3 c.349G>A r.(?) p.(Val117Met)
?/. 3 c.349G>A r.(?) p.(Val117Met)
?/. 3 c.350T>C r.(?) p.(Val117Ala)
+/. 3 c.350T>C r.350u>c p.Val117Ala
?/. 3 c.350T>C r.(?) p.(Val117Ala)
?/. 3 c.350T>C r.(?) p.(Val117Ala)
?/. 3 c.350T>C r.(?) p.(Val117Ala)
?/. 3 c.350T>C r.(?) p.(Val117Ala)
?/. 3 c.350T>C r.(?) p.(Val117Ala)
?/. 3 c.350T>C r.(?) p.(Val117Ala)
?/. 3 c.350T>C r.(?) p.(Val117Ala)
?/. 3 c.350T>C r.(?) p.(Val117Ala)
?/. 3 c.357G>A r.(?) p.(=)
+/. 3 c.362A>G r.(?) p.(Lys121Arg)
+/. 3 c.362A>G r.(?) p.(Lys121Arg)
+/. 3 c.362A>G r.(?) p.(Lys121Arg)
+/. 3 c.362A>G r.(?) p.(Lys121Arg)
+/. - c.362A>G r.(?) p.(Lys121Arg)
+/. 3 c.362A>G r.(?) p.(Lys121Arg)
+/. 3 c.362A>G r.(?) p.(Lys121Arg)
?/. 3 c.376G>A r.(?) p.(Gly126Ser)
?/. 3 c.379A>G r.(?) p.(Thr127Ala)
-/. - c.381C>T r.(?) p.(Thr127=)
?/. 3 c.409C>G r.(?) p.(Leu137Val)
+/. 3 c.424G>A r.424g>A p.Val142Met
?/. 3 c.424G>C r.(?) p.(Val142Leu)
+/. 3i c.428+1G>A r.spl p.?
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del
+/. - c.428+1G>A r.spl? p.?
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del
+?/. - c.428+1G>T r.spl p.?
+/. - c.428+2T>G r.spl? p.?
-/. 3i c.428+14A>G r.(?) p.(=)
-/. - c.428+14A>G r.(=) p.(=)
-/. 3i c.428+14A>G r.(=) p.(=)
-/. - c.428+14A>G r.(=) p.(=)
-/. - c.428+14A>G r.(=) p.(=)
-/. 3i c.428+39C>G r.(?) p.(=)
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10     Next › Last »