Transcript #00000182

Transcript name serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1, transcript variant 5
Gene name SERPINA1 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1)
Chromosome 14
Transcript - NCBI ID NM_001127701.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001121173.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/? 1 c.-458C>T - r.(=) p.(=)
+/+ 1i c.-301+1G>A - r.0 p.?
?/? 1i c.-301+100C>T - r.(=) p.(=)
-/- 0 c.? - r.= p.?
?/? 0 c.? - r.= p.?
-/- 0 c.? - r.(?) p.?
+/+ 0 c.? - r.(?) p.?
+/+ 0 c.? - r.(?) p.?
?/? 0 c.? - r.(?) p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
?/? 0 c.? - r.(?) p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
?/? 0 c.? - r.(?) p.?
?/? 0 c.? - r.(?) p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.= p.?
-/- 0 c.? - r.(?) p.?
-/- 0 c.? - r.(?) p.?
?/? 0 c.? - r.(?) p.?
+/+ 4 c.1G>T - r.0 p.?
?/? 4 c.17C>T - r.(?) p.(Ser6Leu)
-/- 4 c.77A>C - r.= p.(Asp26Ala)
-?/. - c.115C>A likely benign r.(?) p.(His39Asn)
+/+ 4 c.115C>A - r.(?) p.(His39Asn)
-/- 4 c.128A>C - r.= p.(Asp43Ala)
-/- 4 c.172G>A - r.= p.(Ala58Thr)
-?/. - c.172G>T likely benign r.(?) p.(Ala58Ser)
?/? 4 c.187C>T - r.(?) p.(Arg63Cys)
?/. - c.187C>T - r.(?) p.(Arg63Cys)
+/+ 4 c.193del - r.(?) p.(Leu65Trpfs*15)
?/? 4 c.194T>C - r.(?) p.(Leu65Pro)
-?/. - c.199C>T likely benign r.(?) p.(His67Tyr)
-/- 4 c.206C>T - r.= p.(Ser69Phe)
+/+ 4 c.227_229del - r.= p.(Phe76del)
+/+ 4 c.227_229del - r.(?) p.(Phe76del)
?/? 4 c.227_229del - r.(?) p.(Phe76del)
+/. - c.227_229del pathogenic r.(?) p.(Phe76del)
+/+ 4 c.230C>T - r.= p.(Ser77Phe)
-/- 4 c.250G>A - r.= p.(Ala84Thr)
+/+ 4 c.272G>A - r.= p.(Gly91Glu)
+/+ 4 c.273delG - r.(?) p.(Thr92Profs*13)
+/+ 4 c.275C>T - r.(?) p.(Thr92Ile)
-?/. - c.291C>T likely benign r.(=) p.(=)
?/? 4 c.326C>T - r.(?) p.(Thr109Met)
-/- 4 c.334C>A - r.= p.(Pro112Thr)
+/+ 4 c.347T>A - r.= p.(Ile116Asn)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
+/+ 4 c.374G>A - r.= p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
-/- 4 c.374G>A - r.= p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
?/. - c.374G>A - r.(?) p.(Arg125His)
-/- 4 c.374G>A - r.= p.(Arg125His)
-/- 4 c.374G>A - r.= p.(Arg125His)
+/+ 4 c.374G>A - r.= p.(Arg125His)
+/+ 4 c.374G>A - r.(?) p.(Arg125His)
+/+ 4 c.374G>A - r.(?) p.(Arg125His)
-/- 4 c.374G>A - r.= p.(Arg125His)
-/. - c.374G>A benign r.(?) p.(Arg125His)
-/. - c.374G>A benign r.(?) p.(Arg125His)
+/. - c.376del pathogenic r.(?) p.(Thr126Profs*11)
+/+ 4 c.376delA - r.(?) p.(Thr126Profs*11)
+/+ 4 c.386A>C - r.(?) p.(Gln129Pro)
+/+ 4 c.415G>A - r.(?) p.(Gly139Ser)
-/- 4 c.424C>T - r.= p.(=)
?/? 4 c.514G>A - r.(?) p.(Gly172Arg)
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