Transcript #00016161 (NM_017837.3, PIGV gene)

Transcript name transcript variant 2
Gene name PIGV (phosphatidylinositol glycan anchor biosynthesis, class V)
Chromosome 1
Transcript - NCBI ID NM_017837.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060307.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

59 entries on 1 page. Showing entries 1 - 59.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.-113561_*66600dup r.0? p.0?
./. - c.-92062_*66261dup - -
?/. - c.-333C>T r.(=) p.(=)
?/. - c.-333C>T r.(=) p.(=)
+?/. - c.53G>A r.(?) p.(Cys18Tyr)
?/. - c.94A>G r.(?) p.(Ile32Val)
?/. - c.101C>T r.(?) p.(Pro34Leu)
?/. - c.115G>A r.(?) p.(Glu39Lys)
+?/. - c.176T>G r.(?) p.(Leu59Arg)
+?/+? - c.265C>T r.(?) p.(Pro89Ser)
-?/. - c.428A>G r.(?) p.(His143Arg)
+/. - c.439C>T r.(?) p.(Gln147Ter)
+/. - c.439C>T r.(?) p.(Gln147Ter)
+?/+? - c.452C>T r.(?) p.(Ala151Val)
+/. - c.467G>A r.(?) p.(Cys156Tyr)
+/. - c.467G>A r.(?) p.(Cys156Tyr)
+?/. - c.467G>A r.(?) p.(Cys156Tyr)
?/. - c.473G>A r.(?) p.(Ser158Asn)
-?/. - c.473G>A r.(?) p.(Ser158Asn)
+/. - c.494C>A r.(?) p.(Ala165Glu)
+?/. - c.494C>A r.(?) p.(Ala165Glu)
+?/. - c.494C>A r.(?) p.(Ala165Glu)
+/. - c.494C>A r.(?) p.(Ala165Glu)
+?/. - c.494C>A r.(?) p.(Ala165Glu)
-?/. - c.511G>A r.(?) p.(Ala171Thr)
?/. - c.577G>A r.(?) p.(Val193Ile)
+?/+? - c.614A>G r.(?) p.(Asn205Ser)
+?/. 2 c.615C>G r.(?) p.(Asn205Lys)
-?/. - c.626G>C r.(?) p.(Ser209Thr)
+/. - c.766C>A r.(?) p.(Gln256Lys)
+?/. 2 c.854A>G r.(?) p.(Tyr285Cys)
?/. - c.872A>G r.(?) p.(Asn291Ser)
+?/. - c.905T>C r.(?) p.(Leu302Pro)
+/+ - c.1022C>A r.(?) p.(Ala341Glu)
+/+ - c.1022C>A r.(?) p.(Ala341Glu)
+/+ - c.1022C>A r.(?) p.(Ala341Glu)
+/+ - c.1022C>A r.(?) p.(Ala341Glu)
+/+ - c.1022C>A r.(?) p.(Ala341Glu)
+?/. 3 c.1022C>A r.(?) p.(Ala341Glu)
+?/. - c.1022C>A r.(?) p.(Ala341Glu)
+?/. - c.1022C>A r.(?) p.(Ala341Glu)
+?/. - c.1022C>A r.(?) p.(Ala341Glu)
+?/. - c.1022C>A r.(?) p.(Ala341Glu)
+?/. - c.1022C>A r.(?) p.(Ala341Glu)
+?/. - c.1022C>A r.(?) p.(Ala341Glu)
+?/. - c.1022C>A r.(?) p.(Ala341Glu)
+?/. - c.1022C>A r.(?) p.(Ala341Glu)
+/+ - c.1022C>T r.(?) p.(Ala341Val)
+/. - c.1022C>T r.(?) p.(Ala341Val)
-?/. - c.1079G>A r.(?) p.(Arg360Lys)
+/. - c.1154A>C r.(?) p.(His385Pro)
?/. - c.1189A>G r.(?) p.(Met397Val)
+?/. 4 c.1253C>A r.(?) p.(Ala418Asp)
-?/. - c.1277C>T r.(?) p.(Pro426Leu)
+/. - c.1369C>T r.(?) p.(Leu457Phe)
-?/. - c.1369C>T r.(?) p.(Leu457Phe)
?/. - c.1369C>T r.(?) p.(Leu457Phe)
+?/. - c.1405C>T r.(?) p.(Arg469*)
?/. - c.1430C>T r.(?) p.(Thr477Ile)
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