UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151859877A= | CA1591582272 | GLRA1 | c.384T= (p.Phe128=) c.*142T= (n.*142T=) n.667T= c.135T= (p.Phe45=) n.229+1984A= | |
| 5 | g.151859877A>C | CA361841536 | GLRA1 | c.384T>G (p.Phe128Leu) c.*142T>G (n.*142T>G) n.667T>G c.135T>G (p.Phe45Leu) n.229+1984A>C | |
| 5 | g.151859877A>G | CA447420490 | GLRA1 | c.384T>C (p.Phe128=) c.*142T>C (n.*142T>C) n.667T>C c.135T>C (p.Phe45=) n.229+1984A>G | dbSNP |
| 5 | g.151859877A>T | CA361841537 | GLRA1 | c.384T>A (p.Phe128Leu) c.*142T>A (n.*142T>A) n.667T>A c.135T>A (p.Phe45Leu) n.229+1984A>T | |
| 5 | g.151859878A>C | CA361841541 | GLRA1 | c.383T>G (p.Phe128Cys) c.*141T>G (n.*141T>G) n.666T>G c.134T>G (p.Phe45Cys) n.229+1985A>C | |
| 5 | g.151859878A>G | CA361841542 | GLRA1 | c.383T>C (p.Phe128Ser) c.*141T>C (n.*141T>C) n.666T>C c.134T>C (p.Phe45Ser) n.229+1985A>G | |
| 5 | g.151859878A>T | CA361841545 | GLRA1 | c.383T>A (p.Phe128Tyr) c.*141T>A (n.*141T>A) n.666T>A c.134T>A (p.Phe45Tyr) n.229+1985A>T | |
| 5 | g.151859879A>C | CA361841549 | GLRA1 | c.382T>G (p.Phe128Val) c.*140T>G (n.*140T>G) n.665T>G c.133T>G (p.Phe45Val) n.229+1986A>C | |
| 5 | g.151859879A>G | CA361841553 | GLRA1 | c.382T>C (p.Phe128Leu) c.*140T>C (n.*140T>C) n.665T>C c.133T>C (p.Phe45Leu) n.229+1986A>G | |
| 5 | g.151859879A>T | CA361841555 | GLRA1 | c.382T>A (p.Phe128Ile) c.*140T>A (n.*140T>A) n.665T>A c.133T>A (p.Phe45Ile) n.229+1986A>T | |
| 5 | g.151859880G>A | CA447420492 | GLRA1 | c.381C>T (p.Phe127=) c.*139C>T (n.*139C>T) n.664C>T c.132C>T (p.Phe44=) n.229+1987G>A | |
| 5 | g.151859880G>C | CA361841558 | GLRA1 | c.381C>G (p.Phe127Leu) c.*139C>G (n.*139C>G) n.664C>G c.132C>G (p.Phe44Leu) n.229+1987G>C | |
| 5 | g.151859880G>T | CA361841560 | GLRA1 | c.381C>A (p.Phe127Leu) c.*139C>A (n.*139C>A) n.664C>A c.132C>A (p.Phe44Leu) n.229+1987G>T | |
| 5 | g.151859880dup | CA2580073917 | GLRA1 | c.381dup (p.Phe128LeufsTer11) c.*139dup (n.*139dup) n.664dup c.132dup (p.Phe45LeufsTer11) n.229+1987dup | ClinVar |
| 5 | g.151859881A= | CA1591582273 | GLRA1 | c.380T= (p.Phe127=) c.*138T= (n.*138T=) n.663T= c.131T= (p.Phe44=) n.229+1988A= | |
| 5 | g.151859881A>C | CA3523709 | GLRA1 | c.380T>G (p.Phe127Cys) c.*138T>G (n.*138T>G) n.663T>G c.131T>G (p.Phe44Cys) n.229+1988A>C | dbSNP ExAC gnomAD v2 |
| 5 | g.151859881A>G | CA361841563 | GLRA1 | c.380T>C (p.Phe127Ser) c.*138T>C (n.*138T>C) n.663T>C c.131T>C (p.Phe44Ser) n.229+1988A>G | |
| 5 | g.151859881A>T | CA361841566 | GLRA1 | c.380T>A (p.Phe127Tyr) c.*138T>A (n.*138T>A) n.663T>A c.131T>A (p.Phe44Tyr) n.229+1988A>T | |
| 5 | g.151859882A= | CA1591582275 | GLRA1 | c.379T= (p.Phe127=) c.*137T= (n.*137T=) n.662T= c.130T= (p.Phe44=) n.229+1989A= | |
| 5 | g.151859882A>C | CA361841570 | GLRA1 | c.379T>G (p.Phe127Val) c.*137T>G (n.*137T>G) n.662T>G c.130T>G (p.Phe44Val) n.229+1989A>C | |
| 5 | g.151859882A>G | CA361841573 | GLRA1 | c.379T>C (p.Phe127Leu) c.*137T>C (n.*137T>C) n.662T>C c.130T>C (p.Phe44Leu) n.229+1989A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151859882A>T | CA361841576 | GLRA1 | c.379T>A (p.Phe127Ile) c.*137T>A (n.*137T>A) n.662T>A c.130T>A (p.Phe44Ile) n.229+1989A>T | |
| 5 | g.151859882_151859883delinsAC | CA1591582274 | GLRA1 | c.378_379delinsGT (p.Leu126=) c.*136_*137delinsGT (n.*136_*137delinsGT) n.661_662delinsGT c.129_130delinsGT (p.Leu43=) n.229+1989_229+1990delinsAC | |
| 5 | g.151859883del | CA3523710 | GLRA1 | c.378del (p.Phe127SerfsTer20) c.*136del (n.*136del) n.661del c.129del (p.Phe44SerfsTer20) n.229+1990del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151859883C>A | CA129991711 | GLRA1 | c.378G>T (p.Leu126=) c.*136G>T (n.*136G>T) n.661G>T c.129G>T (p.Leu43=) n.229+1990C>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.151859883C= | CA1591582276 | GLRA1 | c.378G= (p.Leu126=) c.*136G= (n.*136G=) n.661G= c.129G= (p.Leu43=) n.229+1990C= | |
| 5 | g.151859883C>G | CA447420501 | GLRA1 | c.378G>C (p.Leu126=) c.*136G>C (n.*136G>C) n.661G>C c.129G>C (p.Leu43=) n.229+1990C>G | |
| 5 | g.151859883C>T | CA3523711 | GLRA1 | c.378G>A (p.Leu126=) c.*136G>A (n.*136G>A) n.661G>A c.129G>A (p.Leu43=) n.229+1990C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.151859884A>C | CA361841581 | GLRA1 | c.377T>G (p.Leu126Arg) c.*135T>G (n.*135T>G) n.660T>G c.128T>G (p.Leu43Arg) n.229+1991A>C | |
| 5 | g.151859884A>G | CA361841583 | GLRA1 | c.377T>C (p.Leu126Pro) c.*135T>C (n.*135T>C) n.660T>C c.128T>C (p.Leu43Pro) n.229+1991A>G | |
| 5 | g.151859884A>T | CA361841585 | GLRA1 | c.377T>A (p.Leu126Gln) c.*135T>A (n.*135T>A) n.660T>A c.128T>A (p.Leu43Gln) n.229+1991A>T | |
| 5 | g.151859885G>A | CA447420514 | GLRA1 | c.376C>T (p.Leu126=) c.*134C>T (n.*134C>T) n.659C>T c.127C>T (p.Leu43=) n.229+1992G>A | |
| 5 | g.151859885G>C | CA361841588 | GLRA1 | c.376C>G (p.Leu126Val) c.*134C>G (n.*134C>G) n.659C>G c.127C>G (p.Leu43Val) n.229+1992G>C | |
| 5 | g.151859885G>T | CA361841591 | GLRA1 | c.376C>A (p.Leu126Met) c.*134C>A (n.*134C>A) n.659C>A c.127C>A (p.Leu43Met) n.229+1992G>T | |
| 5 | g.151859886del | CA2573139333 | GLRA1 | c.376del (p.Leu126CysfsTer21) c.*134del (n.*134del) n.659del c.127del (p.Leu43CysfsTer21) n.229+1993del | ClinVar dbSNP |
| 5 | g.151859886G>A | CA447420517 | GLRA1 | c.375C>T (p.Asp125=) c.*133C>T (n.*133C>T) n.658C>T c.126C>T (p.Asp42=) n.229+1993G>A | |
| 5 | g.151859886G>C | CA361841593 | GLRA1 | c.375C>G (p.Asp125Glu) c.*133C>G (n.*133C>G) n.658C>G c.126C>G (p.Asp42Glu) n.229+1993G>C | |
| 5 | g.151859886G>T | CA361841596 | GLRA1 | c.375C>A (p.Asp125Glu) c.*133C>A (n.*133C>A) n.658C>A c.126C>A (p.Asp42Glu) n.229+1993G>T | |
| 5 | g.151859887T>A | CA361841600 | GLRA1 | c.374A>T (p.Asp125Val) c.*132A>T (n.*132A>T) n.657A>T c.125A>T (p.Asp42Val) n.229+1994T>A | |
| 5 | g.151859887T>C | CA361841604 | GLRA1 | c.374A>G (p.Asp125Gly) c.*132A>G (n.*132A>G) n.657A>G c.125A>G (p.Asp42Gly) n.229+1994T>C | |
| 5 | g.151859887T>G | CA361841602 | GLRA1 | c.374A>C (p.Asp125Ala) c.*132A>C (n.*132A>C) n.657A>C c.125A>C (p.Asp42Ala) n.229+1994T>G | |
| 5 | g.151859888C>A | CA361841606 | GLRA1 | c.373G>T (p.Asp125Tyr) c.*131G>T (n.*131G>T) n.656G>T c.124G>T (p.Asp42Tyr) n.229+1995C>A | |
| 5 | g.151859888C= | CA1591582277 | GLRA1 | c.373G= (p.Asp125=) c.*131G= (n.*131G=) n.656G= c.124G= (p.Asp42=) n.229+1995C= | |
| 5 | g.151859888C>G | CA361841611 | GLRA1 | c.373G>C (p.Asp125His) c.*131G>C (n.*131G>C) n.656G>C c.124G>C (p.Asp42His) n.229+1995C>G | |
| 5 | g.151859888C>T | CA16603330 | GLRA1 | c.373G>A (p.Asp125Asn) c.*131G>A (n.*131G>A) n.656G>A c.124G>A (p.Asp42Asn) n.229+1995C>T | ClinVar dbSNP |
| 5 | g.151859889A>C | CA447420116 | GLRA1 | c.372T>G (p.Pro124=) c.*130T>G (n.*130T>G) n.655T>G c.123T>G (p.Pro41=) n.229+1996A>C | |
| 5 | g.151859889A>G | CA447420118 | GLRA1 | c.372T>C (p.Pro124=) c.*130T>C (n.*130T>C) n.655T>C c.123T>C (p.Pro41=) n.229+1996A>G | |
| 5 | g.151859889A>T | CA447420119 | GLRA1 | c.372T>A (p.Pro124=) c.*130T>A (n.*130T>A) n.655T>A c.123T>A (p.Pro41=) n.229+1996A>T | |
| 5 | g.151859890G>A | CA361841616 | GLRA1 | c.371C>T (p.Pro124Leu) c.*129C>T (n.*129C>T) n.654C>T c.122C>T (p.Pro41Leu) n.229+1997G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151859890G>C | CA361841620 | GLRA1 | c.371C>G (p.Pro124Arg) c.*129C>G (n.*129C>G) n.654C>G c.122C>G (p.Pro41Arg) n.229+1997G>C | dbSNP |