Transcript #00024307 (NM_001146040.1, GLRA1 gene)

Transcript name transcript variant 1
Gene name GLRA1 (glycine receptor, alpha 1)
Chromosome 5
Transcript - NCBI ID NM_001146040.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001139512.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

70 entries on 1 page. Showing entries 1 - 70.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
-/- 1 c.-196C>T r.(?) p.(=)
+/+ _1_6i c.(?_-1)_(697+1_698-1)del r.0? p.0?
+/+ _1_6i c.(?_-1)_(697+1_698-1)del r.0? p.0?
-/- 1 c.56+43G>A r.(?) p.(=)
-?/. - c.57-12C>T r.(=) p.(=)
?/? 2 c.117G>C r.(?) p.(Ser39Ser)
-?/. - c.117G>C r.(?) p.(Ser39=)
-/. - c.185-9G>A r.(=) p.(=)
?/. - c.193G>A r.(?) p.(Val65Met)
-?/. - c.199G>A r.(?) p.(Val67Met)
?/. - c.199G>A r.(?) p.(Val67Met)
-?/. - c.243G>A r.(?) p.(Glu81=)
+/+ 5 c.299G>A r.(?) p.(Arg100His)
?/. - c.305C>T r.(?) p.(Ala102Val)
?/. 4i c.476+40A>G r.(?) p.(=)
?/. 4i c.476+40A>G r.(?) p.(=)
?/. 4i c.476+56C>T r.(?) p.(=)
?/. 4i c.476+56C>T r.(?) p.(=)
-?/. - c.476+111A>C r.(=) p.(=)
?/. 4i c.477-173A>G r.(?) p.(=)
?/. 4i c.477-95T>C r.(?) p.(=)
-?/. - c.559+8T>G r.(=) p.(=)
-?/. - c.560-8C>T r.(=) p.(=)
+/+ 7 c.767A>G r.(?) p.(Tyr256Cys)
+/+ 7 c.767A>G r.(?) p.(Tyr256Cys)
+/+ 7 c.777C>G r.(?) p.(Ser259Arg)
+/+ 7 c.832C>A r.(?) p.(Pro278Thr)
+?/. 7 c.839G>A r.(?) p.(Arg280His)
+/+ 7 c.884G>A r.(?) p.(Ser295Asn)
+/+ 7 c.892T>A r.(?) p.(Ser298Thr)
+/+ 7 c.896G>A r.(?) p.(Arg299Gln)
+/+ 7 c.896G>A r.(?) p.(Arg299Gln)
+/+ 7 c.896G>A r.(?) p.(Arg299Gln)
+/+ 7 c.896G>A r.(?) p.(Arg299Gln)
+/. 7 c.896G>A r.(?) p.(Arg299Gln)
+/+ 7 c.910A>C r.(?) p.(Lys304Gln)
+/+ 7 c.910A>G r.(?) p.(Lys304Glu)
-?/. - c.915G>A r.(?) p.(Val305=)
?/? 8 c.917C>A r.(?) p.(Ser306Tyr)
+/. - c.942G>A r.(?) p.(Trp314*)
-?/. - c.993C>T r.(?) p.(Ala331=)
?/. - c.995T>A r.(?) p.(Val332Asp)
?/? 8 c.1041G>A r.(?) p.(Arg347Arg)
-?/. - c.1041G>A r.(=) p.(=)
-/. - c.1060-149A>T r.(=) p.(=)
-/. - c.1132G>A r.(?) p.(Gly378Ser)
-/. - c.1132G>A r.(?) p.(Gly378Ser)
?/. - c.1141T>C r.(?) p.(Cys381Arg)
-?/. - c.1190A>C r.(?) p.(Asn397Thr)
?/. - c.1198A>G r.(?) p.(Asn400Asp)
-?/. - c.1205C>T r.(?) p.(Pro402Leu)
?/. - c.1264A>C r.(?) p.(Lys422Gln)
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