Transcript #00000168 (NM_000494.3, COL17A1 gene)

Transcript name collagen, type XVII, alpha 1
Gene name COL17A1 (collagen, type XVII, alpha 1)
Chromosome 10
Transcript - NCBI ID NM_000494.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000485.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

58 entries on 1 page. Showing entries 1 - 58.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.186C>T r.(?) p.(Ser62=)
+/. 4 c.202del r.(202del) p.(Thr68Leufs*106)
-?/. - c.382T>A r.(?) p.(Ser128Thr)
-/. - c.566G>C r.(?) p.(Gly189Ala)
-/. - c.629C>T r.(?) p.(Thr210Met)
?/. - c.772G>A r.(?) p.(Gly258Arg)
-/. - c.1062C>T r.(?) p.(Ala354=)
-?/. - c.1138G>A r.(?) p.(Ala380Thr)
-?/. - c.1138G>A r.(?) p.(Ala380Thr)
+/. - c.1179del r.(?) p.(Ala394LeufsTer9)
+/. - c.1179del r.(?) p.(Ala394LeufsTer9)
-?/. - c.1271T>A r.(?) p.(Ile424Asn)
-/. - c.1282G>A r.(?) p.(Gly428Ser)
-?/. - c.1306G>A r.(?) p.(Gly436Arg)
-/. - c.1336G>A r.(?) p.(Gly446Ser)
+/. - c.1465+2T>C r.spl? p.?
-?/. - c.1589C>T r.(?) p.(Ala530Val)
-?/. - c.1590G>A r.(?) p.(Ala530=)
+/. - c.1601del r.(?) p.(Asp534AlafsTer19)
-?/. - c.1618C>A r.(?) p.(Leu540Met)
-?/. - c.1618C>A r.(?) p.(Leu540Met)
-?/. - c.1644C>T r.(?) p.(Leu548=)
-?/. - c.1654G>T r.(?) p.(Val552Leu)
-?/. - c.1761T>C r.(?) p.(Pro587=)
-?/. - c.2092+17C>G r.(=) p.(=)
-/. - c.2107A>G r.(?) p.(Met703Val)
-?/. - c.2361G>C r.(?) p.(Gln787His)
+/+ - c.2363dup r.(?) p.(Leu789Thrfs*13)
-/. - c.2398+19G>A r.(=) p.(=)
+?/. - c.2407G>T r.(?) p.(Gly803*)
+/. - c.2434+1G>A r.spl? p.?
-/. - c.2595C>T r.(?) p.(Arg865=)
?/. - c.2716G>A r.(?) p.(Gly906Ser)
+?/. - c.2716G>A r.(?) p.(Gly906Ser)
?/. - c.2755G>A r.(?) p.(Asp919Asn)
?/. - c.2755G>A r.(?) p.(Asp919Asn)
+/. - c.2861del r.(?) p.(Gly954AlafsTer112)
-/. - c.2883C>A r.(?) p.(Pro961=)
-/. - c.2904A>G r.(?) p.(Pro968=)
?/. - c.2971G>A r.(?) p.(Val991Met)
+?/. - c.3000_3008del r.(?) p.(Pro1003_Gly1005del)
-?/. - c.3190G>A r.(?) p.(Val1064Ile)
?/. - c.3205C>T r.(?) p.(Arg1069Trp)
-/. - c.3208+16C>T r.(=) p.(=)
-/. - c.3261T>C r.(?) p.(Ile1087=)
-/. - c.3278-9C>G r.(=) p.(=)
+?/. - c.3301C>T r.(?) p.(Arg1101Cys)
-/. - c.3600C>T r.(?) p.(Asp1200=)
-?/. - c.3633A>G r.(?) p.(Ser1211=)
?/. - c.3686C>T r.(?) p.(Pro1229Leu)
?/. - c.3730G>A r.(?) p.(Asp1244Asn)
-?/. - c.3766+14C>A r.(=) p.(=)
-?/. - c.4096G>A r.(?) p.(Asp1366Asn)
-?/. - c.4296T>C r.(?) p.(Thr1432=)
-?/. - c.4302A>G r.(?) p.(Gly1434=)
-?/. - c.4304C>T r.(?) p.(Ala1435Val)
-?/. - c.4304C>T r.(?) p.(Ala1435Val)
?/. - c.4460G>A r.(?) p.(Arg1487Gln)
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