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 |
|---|---|---|---|---|---|
| 1 | g.99910727C>A | CA341337318 | AGL | c.3716C>A (p.Ala1239Glu) n.3927C>A c.3668C>A (p.Ala1223Glu) c.3665C>A (p.Ala1222Glu) c.1976C>A (p.Ala659Glu) | |
| 1 | g.99910727C= | CA1183941631 | AGL | c.3716C= (p.Ala1239=) n.3927C= c.3668C= (p.Ala1223=) c.3665C= (p.Ala1222=) c.1976C= (p.Ala659=) | |
| 1 | g.99910727C>G | CA341337324 | AGL | c.3716C>G (p.Ala1239Gly) n.3927C>G c.3668C>G (p.Ala1223Gly) c.3665C>G (p.Ala1222Gly) c.1976C>G (p.Ala659Gly) | |
| 1 | g.99910727C>T | CA341337321 | AGL | c.3716C>T (p.Ala1239Val) n.3927C>T c.3668C>T (p.Ala1223Val) c.3665C>T (p.Ala1222Val) c.1976C>T (p.Ala659Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99910728A>C | CA419091019 | AGL | c.3717A>C (p.Ala1239=) n.3928A>C c.3669A>C (p.Ala1223=) c.3666A>C (p.Ala1222=) c.1977A>C (p.Ala659=) | |
| 1 | g.99910728A>G | CA419091022 | AGL | c.3717A>G (p.Ala1239=) n.3928A>G c.3669A>G (p.Ala1223=) c.3666A>G (p.Ala1222=) c.1977A>G (p.Ala659=) | gnomAD v4 |
| 1 | g.99910728A>T | CA419091024 | AGL | c.3717A>T (p.Ala1239=) n.3928A>T c.3669A>T (p.Ala1223=) c.3666A>T (p.Ala1222=) c.1977A>T (p.Ala659=) | |
| 1 | g.99910729G>A | CA341337325 | AGL | c.3718G>A (p.Gly1240Arg) n.3929G>A c.3670G>A (p.Gly1224Arg) c.3667G>A (p.Gly1223Arg) c.1978G>A (p.Gly660Arg) | gnomAD v4 |
| 1 | g.99910729G>C | CA341337327 | AGL | c.3718G>C (p.Gly1240Arg) n.3929G>C c.3670G>C (p.Gly1224Arg) c.3667G>C (p.Gly1223Arg) c.1978G>C (p.Gly660Arg) | |
| 1 | g.99910729G= | CA1183941634 | AGL | c.3718G= (p.Gly1240=) n.3929G= c.3670G= (p.Gly1224=) c.3667G= (p.Gly1223=) c.1978G= (p.Gly660=) | |
| 1 | g.99910729G>T | CA341337326 | AGL | c.3718G>T (p.Gly1240Ter) n.3929G>T c.3670G>T (p.Gly1224Ter) c.3667G>T (p.Gly1223Ter) c.1978G>T (p.Gly660Ter) | ClinVar dbSNP |
| 1 | g.99910730G>A | CA341337328 | AGL | c.3719G>A (p.Gly1240Glu) n.3930G>A c.3671G>A (p.Gly1224Glu) c.3668G>A (p.Gly1223Glu) c.1979G>A (p.Gly660Glu) | |
| 1 | g.99910730G>C | CA341337332 | AGL | c.3719G>C (p.Gly1240Ala) n.3930G>C c.3671G>C (p.Gly1224Ala) c.3668G>C (p.Gly1223Ala) c.1979G>C (p.Gly660Ala) | |
| 1 | g.99910730G= | CA1183941636 | AGL | c.3719G= (p.Gly1240=) n.3930G= c.3671G= (p.Gly1224=) c.3668G= (p.Gly1223=) c.1979G= (p.Gly660=) | |
| 1 | g.99910730G>T | CA341337330 | AGL | c.3719G>T (p.Gly1240Val) n.3930G>T c.3671G>T (p.Gly1224Val) c.3668G>T (p.Gly1223Val) c.1979G>T (p.Gly660Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910731A>C | CA419091036 | AGL | c.3720A>C (p.Gly1240=) n.3931A>C c.3672A>C (p.Gly1224=) c.3669A>C (p.Gly1223=) c.1980A>C (p.Gly660=) | |
| 1 | g.99910731A>G | CA419091040 | AGL | c.3720A>G (p.Gly1240=) n.3931A>G c.3672A>G (p.Gly1224=) c.3669A>G (p.Gly1223=) c.1980A>G (p.Gly660=) | |
| 1 | g.99910731A>T | CA419091038 | AGL | c.3720A>T (p.Gly1240=) n.3931A>T c.3672A>T (p.Gly1224=) c.3669A>T (p.Gly1223=) c.1980A>T (p.Gly660=) | |
| 1 | g.99910732G>A | CA341337335 | AGL | c.3721G>A (p.Val1241Ile) n.3932G>A c.3673G>A (p.Val1225Ile) c.3670G>A (p.Val1224Ile) c.1981G>A (p.Val661Ile) | |
| 1 | g.99910732G>C | CA341337337 | AGL | c.3721G>C (p.Val1241Leu) n.3932G>C c.3673G>C (p.Val1225Leu) c.3670G>C (p.Val1224Leu) c.1981G>C (p.Val661Leu) | |
| 1 | g.99910732G>T | CA341337340 | AGL | c.3721G>T (p.Val1241Phe) n.3932G>T c.3673G>T (p.Val1225Phe) c.3670G>T (p.Val1224Phe) c.1981G>T (p.Val661Phe) | |
| 1 | g.99910733T>A | CA341337343 | AGL | c.3722T>A (p.Val1241Asp) n.3933T>A c.3674T>A (p.Val1225Asp) c.3671T>A (p.Val1224Asp) c.1982T>A (p.Val661Asp) | |
| 1 | g.99910733T>C | CA341337345 | AGL | c.3722T>C (p.Val1241Ala) n.3933T>C c.3674T>C (p.Val1225Ala) c.3671T>C (p.Val1224Ala) c.1982T>C (p.Val661Ala) | |
| 1 | g.99910733T>G | CA341337347 | AGL | c.3722T>G (p.Val1241Gly) n.3933T>G c.3674T>G (p.Val1225Gly) c.3671T>G (p.Val1224Gly) c.1982T>G (p.Val661Gly) | |
| 1 | g.99910733_99910736delinsTTGA | CA1183941638 | AGL | c.3722_3725delinsTTGA (p.Val1241=) n.3933_3936delinsTTGA c.3674_3677delinsTTGA (p.Val1225=) c.3671_3674delinsTTGA (p.Val1224=) c.1982_1985delinsTTGA (p.Val661=) | |
| 1 | g.99910734T>A | CA419091055 | AGL | c.3723T>A (p.Val1241=) n.3934T>A c.3675T>A (p.Val1225=) c.3672T>A (p.Val1224=) c.1983T>A (p.Val661=) | |
| 1 | g.99910734T>C | CA419091057 | AGL | c.3723T>C (p.Val1241=) n.3934T>C c.3675T>C (p.Val1225=) c.3672T>C (p.Val1224=) c.1983T>C (p.Val661=) | |
| 1 | g.99910734T>G | CA419091059 | AGL | c.3723T>G (p.Val1241=) n.3934T>G c.3675T>G (p.Val1225=) c.3672T>G (p.Val1224=) c.1983T>G (p.Val661=) | |
| 1 | g.99910737_99910739del | CA967199 | AGL | c.3726_3728del (p.Asp1242del) n.3937_3939del c.3678_3680del (p.Asp1226del) c.3675_3677del (p.Asp1225del) c.1986_1988del (p.Asp662del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910735G>A | CA967200 | AGL | c.3724G>A (p.Asp1242Asn) n.3935G>A c.3676G>A (p.Asp1226Asn) c.3673G>A (p.Asp1225Asn) c.1984G>A (p.Asp662Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910735G>C | CA341337360 | AGL | c.3724G>C (p.Asp1242His) n.3935G>C c.3676G>C (p.Asp1226His) c.3673G>C (p.Asp1225His) c.1984G>C (p.Asp662His) | |
| 1 | g.99910735G= | CA1183941641 | AGL | c.3724G= (p.Asp1242=) n.3935G= c.3676G= (p.Asp1226=) c.3673G= (p.Asp1225=) c.1984G= (p.Asp662=) | |
| 1 | g.99910735G>T | CA341337370 | AGL | c.3724G>T (p.Asp1242Tyr) n.3935G>T c.3676G>T (p.Asp1226Tyr) c.3673G>T (p.Asp1225Tyr) c.1984G>T (p.Asp662Tyr) | |
| 1 | g.99910736A>C | CA341337392 | AGL | c.3725A>C (p.Asp1242Ala) n.3936A>C c.3677A>C (p.Asp1226Ala) c.3674A>C (p.Asp1225Ala) c.1985A>C (p.Asp662Ala) | |
| 1 | g.99910736A>G | CA341337381 | AGL | c.3725A>G (p.Asp1242Gly) n.3936A>G c.3677A>G (p.Asp1226Gly) c.3674A>G (p.Asp1225Gly) c.1985A>G (p.Asp662Gly) | |
| 1 | g.99910736A>T | CA341337379 | AGL | c.3725A>T (p.Asp1242Val) n.3936A>T c.3677A>T (p.Asp1226Val) c.3674A>T (p.Asp1225Val) c.1985A>T (p.Asp662Val) | gnomAD v4 |
| 1 | g.99910737T>A | CA341337397 | AGL | c.3726T>A (p.Asp1242Glu) n.3937T>A c.3678T>A (p.Asp1226Glu) c.3675T>A (p.Asp1225Glu) c.1986T>A (p.Asp662Glu) | |
| 1 | g.99910737T>C | CA967201 | AGL | c.3726T>C (p.Asp1242=) n.3937T>C c.3678T>C (p.Asp1226=) c.3675T>C (p.Asp1225=) c.1986T>C (p.Asp662=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910737T>G | CA341337404 | AGL | c.3726T>G (p.Asp1242Glu) n.3937T>G c.3678T>G (p.Asp1226Glu) c.3675T>G (p.Asp1225Glu) c.1986T>G (p.Asp662Glu) | |
| 1 | g.99910737T= | CA1183941642 | AGL | c.3726T= (p.Asp1242=) n.3937T= c.3678T= (p.Asp1226=) c.3675T= (p.Asp1225=) c.1986T= (p.Asp662=) | |
| 1 | g.99910738G>A | CA967202 | AGL | c.3727G>A (p.Glu1243Lys) n.3938G>A c.3679G>A (p.Glu1227Lys) c.3676G>A (p.Glu1226Lys) c.1987G>A (p.Glu663Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910738G>C | CA341337409 | AGL | c.3727G>C (p.Glu1243Gln) n.3938G>C c.3679G>C (p.Glu1227Gln) c.3676G>C (p.Glu1226Gln) c.1987G>C (p.Glu663Gln) | |
| 1 | g.99910738G= | CA1183941643 | AGL | c.3727G= (p.Glu1243=) n.3938G= c.3679G= (p.Glu1227=) c.3676G= (p.Glu1226=) c.1987G= (p.Glu663=) | |
| 1 | g.99910738G>T | CA341337411 | AGL | c.3727G>T (p.Glu1243Ter) n.3938G>T c.3679G>T (p.Glu1227Ter) c.3676G>T (p.Glu1226Ter) c.1987G>T (p.Glu663Ter) | |
| 1 | g.99910739A>C | CA341337414 | AGL | c.3728A>C (p.Glu1243Ala) n.3939A>C c.3680A>C (p.Glu1227Ala) c.3677A>C (p.Glu1226Ala) c.1988A>C (p.Glu663Ala) | |
| 1 | g.99910739A>G | CA341337416 | AGL | c.3728A>G (p.Glu1243Gly) n.3939A>G c.3680A>G (p.Glu1227Gly) c.3677A>G (p.Glu1226Gly) c.1988A>G (p.Glu663Gly) | |
| 1 | g.99910739A>T | CA341337420 | AGL | c.3728A>T (p.Glu1243Val) n.3939A>T c.3680A>T (p.Glu1227Val) c.3677A>T (p.Glu1226Val) c.1988A>T (p.Glu663Val) | |
| 1 | g.99910740A>C | CA341337423 | AGL | c.3729A>C (p.Glu1243Asp) n.3940A>C c.3681A>C (p.Glu1227Asp) c.3678A>C (p.Glu1226Asp) c.1989A>C (p.Glu663Asp) | |
| 1 | g.99910740A>G | CA419091089 | AGL | c.3729A>G (p.Glu1243=) n.3940A>G c.3681A>G (p.Glu1227=) c.3678A>G (p.Glu1226=) c.1989A>G (p.Glu663=) | |
| 1 | g.99910740A>T | CA341337426 | AGL | c.3729A>T (p.Glu1243Asp) n.3940A>T c.3681A>T (p.Glu1227Asp) c.3678A>T (p.Glu1226Asp) c.1989A>T (p.Glu663Asp) |