WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19962679G>A | CA410688670 | COMT | c.153G>A (p.Met51Ile) c.3G>A (p.Met1Ile) n.1G>A n.349G>A c.267G>A (p.Met89Ile) c.564G>A (p.Met188Ile) | gnomAD v4 |
| 22 | g.19962679G>C | CA410688672 | COMT | c.153G>C (p.Met51Ile) c.3G>C (p.Met1Ile) n.1G>C n.349G>C c.267G>C (p.Met89Ile) c.564G>C (p.Met188Ile) | |
| 22 | g.19962679G>T | CA410688671 | COMT | c.153G>T (p.Met51Ile) c.3G>T (p.Met1Ile) n.1G>T n.349G>T c.267G>T (p.Met89Ile) c.564G>T (p.Met188Ile) | gnomAD v4 |
| 22 | g.19962679_19962821del | CA1024175389 | COMT | c.153_289+6del c.3_139+6del n.1_137+6del n.349_491del c.267_403+6del c.564_700+6del | gnomAD v3 gnomAD v4 |
| 22 | g.19962680G>A | CA410688673 | COMT | c.154G>A (p.Gly52Ser) c.4G>A (p.Gly2Ser) n.2G>A n.350G>A c.268G>A (p.Gly90Ser) c.565G>A (p.Gly189Ser) | |
| 22 | g.19962680G>C | CA410688674 | COMT | c.154G>C (p.Gly52Arg) c.4G>C (p.Gly2Arg) n.2G>C n.350G>C c.268G>C (p.Gly90Arg) c.565G>C (p.Gly189Arg) | |
| 22 | g.19962680G>T | CA410688675 | COMT | c.154G>T (p.Gly52Cys) c.4G>T (p.Gly2Cys) n.2G>T n.350G>T c.268G>T (p.Gly90Cys) c.565G>T (p.Gly189Cys) | |
| 22 | g.19962681G>A | CA410688676 | COMT | c.155G>A (p.Gly52Asp) c.5G>A (p.Gly2Asp) n.3G>A n.351G>A c.269G>A (p.Gly90Asp) c.566G>A (p.Gly189Asp) | dbSNP |
| 22 | g.19962681G>C | CA410688677 | COMT | c.155G>C (p.Gly52Ala) c.5G>C (p.Gly2Ala) n.3G>C n.351G>C c.269G>C (p.Gly90Ala) c.566G>C (p.Gly189Ala) | |
| 22 | g.19962681G= | CA2396125236 | COMT | c.155G= (p.Gly52=) c.5G= (p.Gly2=) n.3G= n.351G= c.269G= (p.Gly90=) c.566G= (p.Gly189=) | |
| 22 | g.19962681G>T | CA410688678 | COMT | c.155G>T (p.Gly52Val) c.5G>T (p.Gly2Val) n.3G>T n.351G>T c.269G>T (p.Gly90Val) c.566G>T (p.Gly189Val) | |
| 22 | g.19962682T>A | CA513688497 | COMT | c.156T>A (p.Gly52=) c.6T>A (p.Gly2=) n.4T>A n.352T>A c.270T>A (p.Gly90=) c.567T>A (p.Gly189=) | |
| 22 | g.19962682T>C | CA10104473 | COMT | c.156T>C (p.Gly52=) c.6T>C (p.Gly2=) n.4T>C n.352T>C c.270T>C (p.Gly90=) c.567T>C (p.Gly189=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962682T>G | CA513688496 | COMT | c.156T>G (p.Gly52=) c.6T>G (p.Gly2=) n.4T>G n.352T>G c.270T>G (p.Gly90=) c.567T>G (p.Gly189=) | |
| 22 | g.19962682T= | CA2396125237 | COMT | c.156T= (p.Gly52=) c.6T= (p.Gly2=) n.4T= n.352T= c.270T= (p.Gly90=) c.567T= (p.Gly189=) | |
| 22 | g.19962683G>A | CA410688681 | COMT | c.157G>A (p.Asp53Asn) c.7G>A (p.Asp3Asn) n.5G>A n.353G>A c.271G>A (p.Asp91Asn) c.568G>A (p.Asp190Asn) | gnomAD v4 COSMIC |
| 22 | g.19962683G>C | CA410688679 | COMT | c.157G>C (p.Asp53His) c.7G>C (p.Asp3His) n.5G>C n.353G>C c.271G>C (p.Asp91His) c.568G>C (p.Asp190His) | |
| 22 | g.19962683G>T | CA410688680 | COMT | c.157G>T (p.Asp53Tyr) c.7G>T (p.Asp3Tyr) n.5G>T n.353G>T c.271G>T (p.Asp91Tyr) c.568G>T (p.Asp190Tyr) | |
| 22 | g.19962684A>C | CA410688682 | COMT | c.158A>C (p.Asp53Ala) c.8A>C (p.Asp3Ala) n.6A>C n.354A>C c.272A>C (p.Asp91Ala) c.569A>C (p.Asp190Ala) | |
| 22 | g.19962684A>G | CA410688683 | COMT | c.158A>G (p.Asp53Gly) c.8A>G (p.Asp3Gly) n.6A>G n.354A>G c.272A>G (p.Asp91Gly) c.569A>G (p.Asp190Gly) | |
| 22 | g.19962684A>T | CA410688684 | COMT | c.158A>T (p.Asp53Val) c.8A>T (p.Asp3Val) n.6A>T n.354A>T c.272A>T (p.Asp91Val) c.569A>T (p.Asp190Val) | |
| 22 | g.19962685C>A | CA410688685 | COMT | c.159C>A (p.Asp53Glu) c.9C>A (p.Asp3Glu) n.7C>A n.355C>A c.273C>A (p.Asp91Glu) c.570C>A (p.Asp190Glu) | |
| 22 | g.19962685C>G | CA410688686 | COMT | c.159C>G (p.Asp53Glu) c.9C>G (p.Asp3Glu) n.7C>G n.355C>G c.273C>G (p.Asp91Glu) c.570C>G (p.Asp190Glu) | |
| 22 | g.19962685C>T | CA513687857 | COMT | c.159C>T (p.Asp53=) c.9C>T (p.Asp3=) n.7C>T n.355C>T c.273C>T (p.Asp91=) c.570C>T (p.Asp190=) | |
| 22 | g.19962686A= | CA2396125238 | COMT | c.160A= (p.Thr54=) c.10A= (p.Thr4=) n.8A= n.356A= c.274A= (p.Thr92=) c.571A= (p.Thr191=) | |
| 22 | g.19962686A>C | CA410688687 | COMT | c.160A>C (p.Thr54Pro) c.10A>C (p.Thr4Pro) n.8A>C n.356A>C c.274A>C (p.Thr92Pro) c.571A>C (p.Thr191Pro) | |
| 22 | g.19962686A>G | CA410688689 | COMT | c.160A>G (p.Thr54Ala) c.10A>G (p.Thr4Ala) n.8A>G n.356A>G c.274A>G (p.Thr92Ala) c.571A>G (p.Thr191Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962686A>T | CA410688688 | COMT | c.160A>T (p.Thr54Ser) c.10A>T (p.Thr4Ser) n.8A>T n.356A>T c.274A>T (p.Thr92Ser) c.571A>T (p.Thr191Ser) | |
| 22 | g.19962687C>A | CA410688690 | COMT | c.161C>A (p.Thr54Asn) c.11C>A (p.Thr4Asn) n.9C>A n.357C>A c.275C>A (p.Thr92Asn) c.572C>A (p.Thr191Asn) | gnomAD v4 |
| 22 | g.19962687C= | CA2396125239 | COMT | c.161C= (p.Thr54=) c.11C= (p.Thr4=) n.9C= n.357C= c.275C= (p.Thr92=) c.572C= (p.Thr191=) | |
| 22 | g.19962687C>G | CA410688691 | COMT | c.161C>G (p.Thr54Ser) c.11C>G (p.Thr4Ser) n.9C>G n.357C>G c.275C>G (p.Thr92Ser) c.572C>G (p.Thr191Ser) | dbSNP |
| 22 | g.19962687C>T | CA410688692 | COMT | c.161C>T (p.Thr54Ile) c.11C>T (p.Thr4Ile) n.9C>T n.357C>T c.275C>T (p.Thr92Ile) c.572C>T (p.Thr191Ile) | |
| 22 | g.19962688C>A | CA513687861 | COMT | c.162C>A (p.Thr54=) c.12C>A (p.Thr4=) n.10C>A n.358C>A c.276C>A (p.Thr92=) c.573C>A (p.Thr191=) | |
| 22 | g.19962688C= | CA2396125240 | COMT | c.162C= (p.Thr54=) c.12C= (p.Thr4=) n.10C= n.358C= c.276C= (p.Thr92=) c.573C= (p.Thr191=) | |
| 22 | g.19962688C>G | CA513687860 | COMT | c.162C>G (p.Thr54=) c.12C>G (p.Thr4=) n.10C>G n.358C>G c.276C>G (p.Thr92=) c.573C>G (p.Thr191=) | |
| 22 | g.19962688C>T | CA513687859 | COMT | c.162C>T (p.Thr54=) c.12C>T (p.Thr4=) n.10C>T n.358C>T c.276C>T (p.Thr92=) c.573C>T (p.Thr191=) | dbSNP |
| 22 | g.19962689A>C | CA410688693 | COMT | c.163A>C (p.Lys55Gln) c.13A>C (p.Lys5Gln) n.11A>C n.359A>C c.277A>C (p.Lys93Gln) c.574A>C (p.Lys192Gln) | |
| 22 | g.19962689A>G | CA410688694 | COMT | c.163A>G (p.Lys55Glu) c.13A>G (p.Lys5Glu) n.11A>G n.359A>G c.277A>G (p.Lys93Glu) c.574A>G (p.Lys192Glu) | |
| 22 | g.19962689A>T | CA410688695 | COMT | c.163A>T (p.Lys55Ter) c.13A>T (p.Lys5Ter) n.11A>T n.359A>T c.277A>T (p.Lys93Ter) c.574A>T (p.Lys192Ter) | |
| 22 | g.19962690A>C | CA410688696 | COMT | c.164A>C (p.Lys55Thr) c.14A>C (p.Lys5Thr) n.12A>C n.360A>C c.278A>C (p.Lys93Thr) c.575A>C (p.Lys192Thr) | |
| 22 | g.19962690A>G | CA410688697 | COMT | c.164A>G (p.Lys55Arg) c.14A>G (p.Lys5Arg) n.12A>G n.360A>G c.278A>G (p.Lys93Arg) c.575A>G (p.Lys192Arg) | |
| 22 | g.19962690A>T | CA410688698 | COMT | c.164A>T (p.Lys55Met) c.14A>T (p.Lys5Met) n.12A>T n.360A>T c.278A>T (p.Lys93Met) c.575A>T (p.Lys192Met) | dbSNP |
| 22 | g.19962691G>A | CA513687865 | COMT | c.165G>A (p.Lys55=) c.15G>A (p.Lys5=) n.13G>A n.361G>A c.279G>A (p.Lys93=) c.576G>A (p.Lys192=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962691G>C | CA410688699 | COMT | c.165G>C (p.Lys55Asn) c.15G>C (p.Lys5Asn) n.13G>C n.361G>C c.279G>C (p.Lys93Asn) c.576G>C (p.Lys192Asn) | |
| 22 | g.19962691G= | CA2396125241 | COMT | c.165G= (p.Lys55=) c.15G= (p.Lys5=) n.13G= n.361G= c.279G= (p.Lys93=) c.576G= (p.Lys192=) | |
| 22 | g.19962691G>T | CA410688700 | COMT | c.165G>T (p.Lys55Asn) c.15G>T (p.Lys5Asn) n.13G>T n.361G>T c.279G>T (p.Lys93Asn) c.576G>T (p.Lys192Asn) | |
| 22 | g.19962692G>A | CA410688701 | COMT | c.166G>A (p.Glu56Lys) c.16G>A (p.Glu6Lys) n.14G>A n.362G>A c.280G>A (p.Glu94Lys) c.577G>A (p.Glu193Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962692G>C | CA410688703 | COMT | c.166G>C (p.Glu56Gln) c.16G>C (p.Glu6Gln) n.14G>C n.362G>C c.280G>C (p.Glu94Gln) c.577G>C (p.Glu193Gln) | |
| 22 | g.19962692G= | CA2396125242 | COMT | c.166G= (p.Glu56=) c.16G= (p.Glu6=) n.14G= n.362G= c.280G= (p.Glu94=) c.577G= (p.Glu193=) | |
| 22 | g.19962692G>T | CA410688702 | COMT | c.166G>T (p.Glu56Ter) c.16G>T (p.Glu6Ter) n.14G>T n.362G>T c.280G>T (p.Glu94Ter) c.577G>T (p.Glu193Ter) |