Transcript #00001055 (NM_000501.2, ELN gene)

Transcript name transcript variant 1
Gene name ELN (elastin)
Chromosome 7
Transcript - NCBI ID NM_000501.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000492.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2012-09-13 13:10:11 +02:00 (CEST)
Date last edited N/A


Variants

286 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_33_ c.-91_*1207{0} r.0 p.0
+/. _1_33_ c.0 r.0 p.0
+?/. 1 c.8del r.(?) p.(Gly3Valfs*2)
-?/. - c.20C>T r.(?) p.(Ala7Val)
-?/. - c.21G>A r.(?) p.(Ala7=)
+/. - c.26_33del r.(?) p.(Pro9Argfs*53)
-?/. - c.34G>A r.(?) p.(Gly12Arg)
+?/. 1 c.34G>T r.(?) p.(Gly12*)
+?/. - c.82+1G>A r.spl? p.?
-?/. - c.83-105A>C r.(=) p.(=)
?/. - c.97A>G r.(?) p.(Ile33Val)
-?/. - c.133+6G>A r.(=) p.(=)
-?/. - c.133+7T>G r.(=) p.(=)
-/. - c.133+16C>A r.(=) p.(=)
-?/. - c.133+16C>A r.(=) p.(=)
-?/. - c.133+16C>A r.(=) p.(=)
-?/. - c.134-7C>A r.(=) p.(=)
-?/. - c.134-7C>A r.(=) p.(=)
-?/. - c.134-7C>A r.(=) p.(=)
-?/. - c.134-7C>A r.(=) p.(=)
-?/. - c.134-6C>A r.(=) p.(=)
-/. - c.134-5C>A r.spl? p.?
-?/. - c.134-5C>A r.spl? p.?
-?/. - c.134-5C>T r.spl? p.?
?/. - c.145G>A r.(?) p.(Gly49Arg)
?/. - c.145G>A r.(?) p.(Gly49Arg)
-?/. - c.159A>T r.(?) p.(Gly53=)
+/. - c.160G>T r.(?) p.(Gly54*)
?/. - c.164C>A r.(?) p.(Ala55Glu)
?/. - c.175G>A r.(?) p.(Gly59Arg)
-?/. - c.196+13G>C r.(=) p.(=)
-?/. - c.197-174A>G r.(=) p.(=)
-?/. - c.197-9T>C r.(=) p.(=)
-/. - c.212C>T r.(?) p.(Ala71Val)
-?/. - c.212C>T r.(?) p.(Ala71Val)
-?/. - c.232+3G>A r.spl? p.?
-?/. - c.232+3G>A r.spl? p.?
-/. - c.232+3G>A r.spl? p.?
-/. - c.232+77C>T r.(=) p.(=)
-?/. - c.233-8C>T r.(=) p.(=)
-?/. - c.233-4G>A r.spl? p.?
-?/. - c.264G>A r.(?) p.(Pro88=)
+?/. - c.325+5G>C r.(?) p.(?)
?/. - c.326-1G>A r.spl? p.?
?/. - c.326G>A r.(?) p.(Gly109Asp)
?/. - c.326G>A r.(?) p.(Gly109Asp)
-?/. - c.326G>A r.(?) p.(Gly109Asp)
-?/. - c.326G>A r.(?) p.(Gly109Asp)
-?/. - c.326G>A r.(?) p.(Gly109Asp)
-?/. - c.328G>A r.(?) p.(Ala110Thr)
-?/. - c.328G>A r.(?) p.(Ala110Thr)
?/. - c.328G>A r.(?) p.(Ala110Thr)
?/. - c.328G>A r.(?) p.(Ala110Thr)
?/. - c.403G>A r.(?) p.(Gly135Arg)
-?/. - c.414T>C r.(?) p.(Pro138=)
-?/. - c.414T>C r.(?) p.(Pro138=)
-/. - c.427+8C>T r.(=) p.(=)
-/. - c.427+8C>T r.(=) p.(=)
-?/. - c.427+8C>T r.(=) p.(=)
-?/. - c.427+9G>A r.(=) p.(=)
-?/. 8i c.427+92G>C r.(=) p.(=)
?/. - c.431T>G r.(?) p.(Val144Gly)
?/. - c.434G>T r.(?) p.(Gly145Val)
+?/. 9 c.450C>A r.(?) p.(Tyr150*)
?/. - c.460G>A r.(?) p.(Val154Met)
?/. - c.470-10C>G r.(=) p.(=)
-?/. - c.483C>A r.(?) p.(Pro161=)
-?/. - c.483C>A r.(?) p.(Pro161=)
-/. - c.493G>T r.(?) p.(Val165Leu)
?/. - c.493G>T r.(?) p.(Val165Leu)
-?/. - c.541+311A>G r.(=) p.(=)
?/. - c.574_579del r.(?) p.(Val192_Gly193del)
+?/. - c.589G>T r.(?) p.(Gly197*)
-?/. - c.594G>A r.(?) p.(Pro198=)
?/. - c.647G>T r.(?) p.(Gly216Val)
-?/. - c.647G>T r.(?) p.(Gly216Val)
-?/. - c.647G>T r.(?) p.(Gly216Val)
-?/. - c.647G>T r.(?) p.(Gly216Val)
+/. - c.690T>G r.(?) p.(Tyr230Ter)
?/. - c.734C>A r.(?) p.(Pro245Gln)
+?/. - c.745+2T>G r.spl? p.?
-?/. - c.745+16C>T r.(=) p.(=)
-?/. - c.746-15G>C r.(=) p.(=)
?/. - c.771_773dup r.(?) p.(Ala260dup)
-?/. - c.800-5A>T r.spl? p.?
-?/. - c.861G>A r.(?) p.(Gly287=)
-?/. - c.861G>A r.(?) p.(Gly287=)
?/. - c.881G>C r.(?) p.(Gly294Ala)
?/. - c.881G>C r.(?) p.(Gly294Ala)
-/. - c.892G>A r.(?) p.(Val298Ile)
-/. - c.892G>A r.(?) p.(Val298Ile)
?/. - c.892G>A r.(?) p.(Val298Ile)
-?/. - c.899C>T r.(?) p.(Thr300Ile)
?/. - c.912_923del r.(?) p.(Ala308_Ala311del)
-/. - c.921A>G r.(?) p.(Ala307=)
-/. - c.931G>A r.(?) p.(Ala311Thr)
-?/. - c.992C>T r.(?) p.(Pro331Leu)
-?/. - c.1001T>C r.(?) p.(Val334Ala)
-?/. - c.1021G>A r.(?) p.(Val341Ile)
-?/. - c.1082G>A r.(?) p.(Gly361Asp)
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