Transcript #00000019

Transcript name collagen, type VII, alpha 1
Gene name COL7A1 (collagen, type VII, alpha 1)
Chromosome 3
Transcript - NCBI ID NM_000094.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000085.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-4551G>A r.(?) p.(=)
+/? 1 c.3G>A r.(?) p.(Met1?)
+/? 1 c.3G>T r.(?) p.(Met1?)
+/? 1 c.3G>T r.(?) p.(Met1?)
+/? 1 c.3G>T r.(?) p.(Met1?)
-?/. - c.54G>C r.(?) p.(Ala18=)
-?/. - c.54G>C r.(?) p.(Ala18=)
+/? 1 c.58C>T r.(?) p.(Arg20*)
+/. - c.58C>T r.(?) p.(Arg20Ter)
+/? 1 c.58_70del r.(?) p.(Arg20Serfs*6)
+/? 1 c.62dup r.(?) p.(Arg22Alafs*17)
-/. - c.89C>T r.(?) p.(Thr30Ile)
+/? 2 c.111_112insA r.(?) p.(Asp38Argfs*50)
+/? 2 c.143C>T r.(?) p.(Ser48Phe)
+/? 2 c.151C>G r.(?) p.(Arg51Gly)
?/. - c.229G>A r.(?) p.(Val77Met)
+/? 2 c.238G>C r.(?) p.(Ala80Pro)
+/? 2i c.267-3C>G r.spl p.(=)
+/? 2i c.267-1G>C r.spl p.(=)
+/? 3 c.313dup r.(?) p.(Arg105Profs*5)
+/? 3 c.325_326insCG r.(?) p.(Glu109Alafs*39)
+/? 3 c.325_326insCG r.(?) p.(Glu109Alafs*39)
+/? 3 c.325_326insCG r.(?) p.(Glu109Alafs*39)
+/? 3 c.325_326insCG r.(?) p.(Glu109Alafs*39)
+/? 3 c.336C>G r.(?) p.(Tyr112*)
+/? 3 c.344dup r.(?) p.(Asn116Glnfs*13)
+/? 3 c.344dup r.(?) p.(Asn116Glnfs*13)
+/? 3 c.353delinsCCCCCTTGCAA r.(?) p.(Arg118Profs*14)
+/? 3 c.409C>T r.(?) p.(Arg137*)
+/. - c.425A>G r.(?) p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/. - c.425A>G r.(?) p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3 c.425A>G r.spl p.(Lys142Arg)
+/? 3i c.426+1G>A r.spl p.(=)
+/? 4 c.431_434dup r.(?) p.(Ile145Metfs*36)
+/? 4 c.448G>A r.(?) p.(Gly150Arg)
+/? 4 c.448G>A r.(?) p.(Gly150Arg)
+/? 4 c.448G>A r.(?) p.(Gly150Arg)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/? 4 c.497dup r.(?) p.(Val168Glyfs*12)
+/. - c.497dup r.(?) p.(Val168GlyfsTer12)
+/? 4 c.520G>A r.spl p.(Gly174Arg)
+/? 4 c.520G>A r.spl p.(Gly174Arg)
-?/. - c.521-10G>A r.(=) p.(=)
+/? 4 c.522_528del r.(?) p.(Ile175Metfs*7)
+/? 5 c.553C>T r.(?) p.(Arg185*)
+/? 5 c.553C>T r.(?) p.(Arg185*)
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10     Next › Last »