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 |
|---|---|---|---|---|---|
| 9 | g.122381439G>A | CA374780631 | PTGS1 | c.565G>A (p.Asp189Asn) c.238G>A (p.Asp80Asn) c.313-57G>A (n.313-57G>A) c.490G>A (p.Asp164Asn) c.421G>A (p.Asp141Asn) n.659G>A n.519+2866G>A c.*410G>A (n.*410G>A) c.304-57G>A (n.304-57G>A) c.658G>A (p.Asp220Asn) | |
| 9 | g.122381439G>C | CA374780634 | PTGS1 | c.565G>C (p.Asp189His) c.238G>C (p.Asp80His) c.313-57G>C (n.313-57G>C) c.490G>C (p.Asp164His) c.421G>C (p.Asp141His) n.659G>C n.519+2866G>C c.*410G>C (n.*410G>C) c.304-57G>C (n.304-57G>C) c.658G>C (p.Asp220His) | |
| 9 | g.122381439G>T | CA374780636 | PTGS1 | c.565G>T (p.Asp189Tyr) c.238G>T (p.Asp80Tyr) c.313-57G>T (n.313-57G>T) c.490G>T (p.Asp164Tyr) c.421G>T (p.Asp141Tyr) n.659G>T n.519+2866G>T c.*410G>T (n.*410G>T) c.304-57G>T (n.304-57G>T) c.658G>T (p.Asp220Tyr) | |
| 9 | g.122381440A>C | CA374780642 | PTGS1 | c.566A>C (p.Asp189Ala) c.239A>C (p.Asp80Ala) c.313-56A>C (n.313-56A>C) c.491A>C (p.Asp164Ala) c.422A>C (p.Asp141Ala) n.660A>C n.519+2867A>C c.*411A>C (n.*411A>C) c.304-56A>C (n.304-56A>C) c.659A>C (p.Asp220Ala) | |
| 9 | g.122381440A>G | CA374780641 | PTGS1 | c.566A>G (p.Asp189Gly) c.239A>G (p.Asp80Gly) c.313-56A>G (n.313-56A>G) c.491A>G (p.Asp164Gly) c.422A>G (p.Asp141Gly) n.660A>G n.519+2867A>G c.*411A>G (n.*411A>G) c.304-56A>G (n.304-56A>G) c.659A>G (p.Asp220Gly) | |
| 9 | g.122381440A>T | CA374780639 | PTGS1 | c.566A>T (p.Asp189Val) c.239A>T (p.Asp80Val) c.313-56A>T (n.313-56A>T) c.491A>T (p.Asp164Val) c.422A>T (p.Asp141Val) n.660A>T n.519+2867A>T c.*411A>T (n.*411A>T) c.304-56A>T (n.304-56A>T) c.659A>T (p.Asp220Val) | |
| 9 | g.122381441C>A | CA199478771 | PTGS1 | c.567C>A (p.Asp189Glu) c.240C>A (p.Asp80Glu) c.313-55C>A (n.313-55C>A) c.492C>A (p.Asp164Glu) c.423C>A (p.Asp141Glu) n.661C>A n.519+2868C>A c.*412C>A (n.*412C>A) c.304-55C>A (n.304-55C>A) c.660C>A (p.Asp220Glu) | dbSNP gnomAD v4 |
| 9 | g.122381441C= | CA1877496566 | PTGS1 | c.567C= (p.Asp189=) c.240C= (p.Asp80=) c.313-55C= (n.313-55C=) c.492C= (p.Asp164=) c.423C= (p.Asp141=) n.661C= n.519+2868C= c.*412C= (n.*412C=) c.304-55C= (n.304-55C=) c.660C= (p.Asp220=) | |
| 9 | g.122381441C>G | CA374780647 | PTGS1 | c.567C>G (p.Asp189Glu) c.240C>G (p.Asp80Glu) c.313-55C>G (n.313-55C>G) c.492C>G (p.Asp164Glu) c.423C>G (p.Asp141Glu) n.661C>G n.519+2868C>G c.*412C>G (n.*412C>G) c.304-55C>G (n.304-55C>G) c.660C>G (p.Asp220Glu) | dbSNP |
| 9 | g.122381441C>T | CA467190935 | PTGS1 | c.567C>T (p.Asp189=) c.240C>T (p.Asp80=) c.313-55C>T (n.313-55C>T) c.492C>T (p.Asp164=) c.423C>T (p.Asp141=) n.661C>T n.519+2868C>T c.*412C>T (n.*412C>T) c.304-55C>T (n.304-55C>T) c.660C>T (p.Asp220=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381442C>A | CA5224849 | PTGS1 | c.568C>A (p.Pro190Thr) c.241C>A (p.Pro81Thr) c.313-54C>A (n.313-54C>A) c.493C>A (p.Pro165Thr) c.424C>A (p.Pro142Thr) n.662C>A n.519+2869C>A c.*413C>A (n.*413C>A) c.304-54C>A (n.304-54C>A) c.661C>A (p.Pro221Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381442C= | CA1877496567 | PTGS1 | c.568C= (p.Pro190=) c.241C= (p.Pro81=) c.313-54C= (n.313-54C=) c.493C= (p.Pro165=) c.424C= (p.Pro142=) n.662C= n.519+2869C= c.*413C= (n.*413C=) c.304-54C= (n.304-54C=) c.661C= (p.Pro221=) | |
| 9 | g.122381442C>G | CA374780651 | PTGS1 | c.568C>G (p.Pro190Ala) c.241C>G (p.Pro81Ala) c.313-54C>G (n.313-54C>G) c.493C>G (p.Pro165Ala) c.424C>G (p.Pro142Ala) n.662C>G n.519+2869C>G c.*413C>G (n.*413C>G) c.304-54C>G (n.304-54C>G) c.661C>G (p.Pro221Ala) | |
| 9 | g.122381442C>T | CA374780654 | PTGS1 | c.568C>T (p.Pro190Ser) c.241C>T (p.Pro81Ser) c.313-54C>T (n.313-54C>T) c.493C>T (p.Pro165Ser) c.424C>T (p.Pro142Ser) n.662C>T n.519+2869C>T c.*413C>T (n.*413C>T) c.304-54C>T (n.304-54C>T) c.661C>T (p.Pro221Ser) | gnomAD v4 |
| 9 | g.122381443C>A | CA374780656 | PTGS1 | c.569C>A (p.Pro190His) c.242C>A (p.Pro81His) c.313-53C>A (n.313-53C>A) c.494C>A (p.Pro165His) c.425C>A (p.Pro142His) n.663C>A n.519+2870C>A c.*414C>A (n.*414C>A) c.304-53C>A (n.304-53C>A) c.662C>A (p.Pro221His) | |
| 9 | g.122381443C>G | CA374780659 | PTGS1 | c.569C>G (p.Pro190Arg) c.242C>G (p.Pro81Arg) c.313-53C>G (n.313-53C>G) c.494C>G (p.Pro165Arg) c.425C>G (p.Pro142Arg) n.663C>G n.519+2870C>G c.*414C>G (n.*414C>G) c.304-53C>G (n.304-53C>G) c.662C>G (p.Pro221Arg) | |
| 9 | g.122381443C>T | CA374780662 | PTGS1 | c.569C>T (p.Pro190Leu) c.242C>T (p.Pro81Leu) c.313-53C>T (n.313-53C>T) c.494C>T (p.Pro165Leu) c.425C>T (p.Pro142Leu) n.663C>T n.519+2870C>T c.*414C>T (n.*414C>T) c.304-53C>T (n.304-53C>T) c.662C>T (p.Pro221Leu) | |
| 9 | g.122381444C>A | CA467190937 | PTGS1 | c.570C>A (p.Pro190=) c.243C>A (p.Pro81=) c.313-52C>A (n.313-52C>A) c.495C>A (p.Pro165=) c.426C>A (p.Pro142=) n.664C>A n.519+2871C>A c.*415C>A (n.*415C>A) c.304-52C>A (n.304-52C>A) c.663C>A (p.Pro221=) | |
| 9 | g.122381444C= | CA1877496568 | PTGS1 | c.570C= (p.Pro190=) c.243C= (p.Pro81=) c.313-52C= (n.313-52C=) c.495C= (p.Pro165=) c.426C= (p.Pro142=) n.664C= n.519+2871C= c.*415C= (n.*415C=) c.304-52C= (n.304-52C=) c.663C= (p.Pro221=) | |
| 9 | g.122381444C>G | CA5224850 | PTGS1 | c.570C>G (p.Pro190=) c.243C>G (p.Pro81=) c.313-52C>G (n.313-52C>G) c.495C>G (p.Pro165=) c.426C>G (p.Pro142=) n.664C>G n.519+2871C>G c.*415C>G (n.*415C>G) c.304-52C>G (n.304-52C>G) c.663C>G (p.Pro221=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.122381444C>T | CA467190936 | PTGS1 | c.570C>T (p.Pro190=) c.243C>T (p.Pro81=) c.313-52C>T (n.313-52C>T) c.495C>T (p.Pro165=) c.426C>T (p.Pro142=) n.664C>T n.519+2871C>T c.*415C>T (n.*415C>T) c.304-52C>T (n.304-52C>T) c.663C>T (p.Pro221=) | dbSNP gnomAD v4 |
| 9 | g.122381445C>A | CA5224851 | PTGS1 | c.571C>A (p.Gln191Lys) c.244C>A (p.Gln82Lys) c.313-51C>A (n.313-51C>A) c.496C>A (p.Gln166Lys) c.427C>A (p.Gln143Lys) n.665C>A n.519+2872C>A c.*416C>A (n.*416C>A) c.304-51C>A (n.304-51C>A) c.664C>A (p.Gln222Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381445C= | CA1877496569 | PTGS1 | c.571C= (p.Gln191=) c.244C= (p.Gln82=) c.313-51C= (n.313-51C=) c.496C= (p.Gln166=) c.427C= (p.Gln143=) n.665C= n.519+2872C= c.*416C= (n.*416C=) c.304-51C= (n.304-51C=) c.664C= (p.Gln222=) | |
| 9 | g.122381445C>G | CA374780670 | PTGS1 | c.571C>G (p.Gln191Glu) c.244C>G (p.Gln82Glu) c.313-51C>G (n.313-51C>G) c.496C>G (p.Gln166Glu) c.427C>G (p.Gln143Glu) n.665C>G n.519+2872C>G c.*416C>G (n.*416C>G) c.304-51C>G (n.304-51C>G) c.664C>G (p.Gln222Glu) | |
| 9 | g.122381445C>T | CA374780672 | PTGS1 | c.571C>T (p.Gln191Ter) c.244C>T (p.Gln82Ter) c.313-51C>T (n.313-51C>T) c.496C>T (p.Gln166Ter) c.427C>T (p.Gln143Ter) n.665C>T n.519+2872C>T c.*416C>T (n.*416C>T) c.304-51C>T (n.304-51C>T) c.664C>T (p.Gln222Ter) | |
| 9 | g.122381445_122381446del | CA2539418483 | PTGS1 | c.571_572del (p.Gln191ArgfsTer?) c.244_245del (p.Gln82ArgfsTer?) c.313-51_313-50del (n.313-51_313-50del) c.496_497del (p.Gln166ArgfsTer?) c.427_428del (p.Gln143ArgfsTer?) n.665_666del n.519+2872_519+2873del c.*416_*417del (n.*416_*417del) c.304-51_304-50del (n.304-51_304-50del) c.664_665del (p.Gln222ArgfsTer?) | |
| 9 | g.122381446A= | CA1877496570 | PTGS1 | c.572A= (p.Gln191=) c.245A= (p.Gln82=) c.313-50A= (n.313-50A=) c.497A= (p.Gln166=) c.428A= (p.Gln143=) n.666A= n.519+2873A= c.*417A= (n.*417A=) c.304-50A= (n.304-50A=) c.665A= (p.Gln222=) | |
| 9 | g.122381446A>C | CA374780680 | PTGS1 | c.572A>C (p.Gln191Pro) c.245A>C (p.Gln82Pro) c.313-50A>C (n.313-50A>C) c.497A>C (p.Gln166Pro) c.428A>C (p.Gln143Pro) n.666A>C n.519+2873A>C c.*417A>C (n.*417A>C) c.304-50A>C (n.304-50A>C) c.665A>C (p.Gln222Pro) | |
| 9 | g.122381446A>G | CA374780677 | PTGS1 | c.572A>G (p.Gln191Arg) c.245A>G (p.Gln82Arg) c.313-50A>G (n.313-50A>G) c.497A>G (p.Gln166Arg) c.428A>G (p.Gln143Arg) n.666A>G n.519+2873A>G c.*417A>G (n.*417A>G) c.304-50A>G (n.304-50A>G) c.665A>G (p.Gln222Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.122381446A>T | CA374780675 | PTGS1 | c.572A>T (p.Gln191Leu) c.245A>T (p.Gln82Leu) c.313-50A>T (n.313-50A>T) c.497A>T (p.Gln166Leu) c.428A>T (p.Gln143Leu) n.666A>T n.519+2873A>T c.*417A>T (n.*417A>T) c.304-50A>T (n.304-50A>T) c.665A>T (p.Gln222Leu) | |
| 9 | g.122381447A>C | CA374780683 | PTGS1 | c.573A>C (p.Gln191His) c.246A>C (p.Gln82His) c.313-49A>C (n.313-49A>C) c.498A>C (p.Gln166His) c.429A>C (p.Gln143His) n.667A>C n.519+2874A>C c.*418A>C (n.*418A>C) c.304-49A>C (n.304-49A>C) c.666A>C (p.Gln222His) | |
| 9 | g.122381447A>G | CA467190938 | PTGS1 | c.573A>G (p.Gln191=) c.246A>G (p.Gln82=) c.313-49A>G (n.313-49A>G) c.498A>G (p.Gln166=) c.429A>G (p.Gln143=) n.667A>G n.519+2874A>G c.*418A>G (n.*418A>G) c.304-49A>G (n.304-49A>G) c.666A>G (p.Gln222=) | gnomAD v4 |
| 9 | g.122381447A>T | CA374780684 | PTGS1 | c.573A>T (p.Gln191His) c.246A>T (p.Gln82His) c.313-49A>T (n.313-49A>T) c.498A>T (p.Gln166His) c.429A>T (p.Gln143His) n.667A>T n.519+2874A>T c.*418A>T (n.*418A>T) c.304-49A>T (n.304-49A>T) c.666A>T (p.Gln222His) | |
| 9 | g.122381448G>A | CA5224852 | PTGS1 | c.574G>A (p.Gly192Ser) c.247G>A (p.Gly83Ser) c.313-48G>A (n.313-48G>A) c.499G>A (p.Gly167Ser) c.430G>A (p.Gly144Ser) n.668G>A n.519+2875G>A c.*419G>A (n.*419G>A) c.304-48G>A (n.304-48G>A) c.667G>A (p.Gly223Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.122381448G>C | CA374780688 | PTGS1 | c.574G>C (p.Gly192Arg) c.247G>C (p.Gly83Arg) c.313-48G>C (n.313-48G>C) c.499G>C (p.Gly167Arg) c.430G>C (p.Gly144Arg) n.668G>C n.519+2875G>C c.*419G>C (n.*419G>C) c.304-48G>C (n.304-48G>C) c.667G>C (p.Gly223Arg) | |
| 9 | g.122381448G= | CA1877496571 | PTGS1 | c.574G= (p.Gly192=) c.247G= (p.Gly83=) c.313-48G= (n.313-48G=) c.499G= (p.Gly167=) c.430G= (p.Gly144=) n.668G= n.519+2875G= c.*419G= (n.*419G=) c.304-48G= (n.304-48G=) c.667G= (p.Gly223=) | |
| 9 | g.122381448G>T | CA374780691 | PTGS1 | c.574G>T (p.Gly192Cys) c.247G>T (p.Gly83Cys) c.313-48G>T (n.313-48G>T) c.499G>T (p.Gly167Cys) c.430G>T (p.Gly144Cys) n.668G>T n.519+2875G>T c.*419G>T (n.*419G>T) c.304-48G>T (n.304-48G>T) c.667G>T (p.Gly223Cys) | |
| 9 | g.122381448_122381449dup | CA2516246815 | PTGS1 | c.574_575dup (p.Thr193AlafsTer?) c.247_248dup (p.Thr84AlafsTer?) c.313-48_313-47dup (n.313-48_313-47dup) c.499_500dup (p.Thr168AlafsTer?) c.430_431dup (p.Thr145AlafsTer?) n.668_669dup n.519+2875_519+2876dup c.*419_*420dup (n.*419_*420dup) c.304-48_304-47dup (n.304-48_304-47dup) c.667_668dup (p.Thr224AlafsTer?) | |
| 9 | g.122381449del | CA2691551909 | PTGS1 | c.575del (p.Gly192AlafsTer?) c.248del (p.Gly83AlafsTer?) c.313-47del (n.313-47del) c.500del (p.Gly167AlafsTer?) c.431del (p.Gly144AlafsTer?) n.669del n.519+2876del c.*420del (n.*420del) c.304-47del (n.304-47del) c.668del (p.Gly223AlafsTer?) | gnomAD v4 |
| 9 | g.122381449G>A | CA374780694 | PTGS1 | c.575G>A (p.Gly192Asp) c.248G>A (p.Gly83Asp) c.313-47G>A (n.313-47G>A) c.500G>A (p.Gly167Asp) c.431G>A (p.Gly144Asp) n.669G>A n.519+2876G>A c.*420G>A (n.*420G>A) c.304-47G>A (n.304-47G>A) c.668G>A (p.Gly223Asp) | dbSNP gnomAD v4 |
| 9 | g.122381449G>C | CA374780695 | PTGS1 | c.575G>C (p.Gly192Ala) c.248G>C (p.Gly83Ala) c.313-47G>C (n.313-47G>C) c.500G>C (p.Gly167Ala) c.431G>C (p.Gly144Ala) n.669G>C n.519+2876G>C c.*420G>C (n.*420G>C) c.304-47G>C (n.304-47G>C) c.668G>C (p.Gly223Ala) | |
| 9 | g.122381449G= | CA1877496572 | PTGS1 | c.575G= (p.Gly192=) c.248G= (p.Gly83=) c.313-47G= (n.313-47G=) c.500G= (p.Gly167=) c.431G= (p.Gly144=) n.669G= n.519+2876G= c.*420G= (n.*420G=) c.304-47G= (n.304-47G=) c.668G= (p.Gly223=) | |
| 9 | g.122381449G>T | CA374780697 | PTGS1 | c.575G>T (p.Gly192Val) c.248G>T (p.Gly83Val) c.313-47G>T (n.313-47G>T) c.500G>T (p.Gly167Val) c.431G>T (p.Gly144Val) n.669G>T n.519+2876G>T c.*420G>T (n.*420G>T) c.304-47G>T (n.304-47G>T) c.668G>T (p.Gly223Val) | |
| 9 | g.122381450C>A | CA467190939 | PTGS1 | c.576C>A (p.Gly192=) c.249C>A (p.Gly83=) c.313-46C>A (n.313-46C>A) c.501C>A (p.Gly167=) c.432C>A (p.Gly144=) n.670C>A n.519+2877C>A c.*421C>A (n.*421C>A) c.304-46C>A (n.304-46C>A) c.669C>A (p.Gly223=) | |
| 9 | g.122381450C>G | CA467190940 | PTGS1 | c.576C>G (p.Gly192=) c.249C>G (p.Gly83=) c.313-46C>G (n.313-46C>G) c.501C>G (p.Gly167=) c.432C>G (p.Gly144=) n.670C>G n.519+2877C>G c.*421C>G (n.*421C>G) c.304-46C>G (n.304-46C>G) c.669C>G (p.Gly223=) | |
| 9 | g.122381450C>T | CA467190941 | PTGS1 | c.576C>T (p.Gly192=) c.249C>T (p.Gly83=) c.313-46C>T (n.313-46C>T) c.501C>T (p.Gly167=) c.432C>T (p.Gly144=) n.670C>T n.519+2877C>T c.*421C>T (n.*421C>T) c.304-46C>T (n.304-46C>T) c.669C>T (p.Gly223=) | |
| 9 | g.122381451A>C | CA374780700 | PTGS1 | c.577A>C (p.Thr193Pro) c.250A>C (p.Thr84Pro) c.313-45A>C (n.313-45A>C) c.502A>C (p.Thr168Pro) c.433A>C (p.Thr145Pro) n.671A>C n.519+2878A>C c.*422A>C (n.*422A>C) c.304-45A>C (n.304-45A>C) c.670A>C (p.Thr224Pro) | |
| 9 | g.122381451A>G | CA374780703 | PTGS1 | c.577A>G (p.Thr193Ala) c.250A>G (p.Thr84Ala) c.313-45A>G (n.313-45A>G) c.502A>G (p.Thr168Ala) c.433A>G (p.Thr145Ala) n.671A>G n.519+2878A>G c.*422A>G (n.*422A>G) c.304-45A>G (n.304-45A>G) c.670A>G (p.Thr224Ala) | |
| 9 | g.122381451A>T | CA374780706 | PTGS1 | c.577A>T (p.Thr193Ser) c.250A>T (p.Thr84Ser) c.313-45A>T (n.313-45A>T) c.502A>T (p.Thr168Ser) c.433A>T (p.Thr145Ser) n.671A>T n.519+2878A>T c.*422A>T (n.*422A>T) c.304-45A>T (n.304-45A>T) c.670A>T (p.Thr224Ser) | |
| 9 | g.122381452C>A | CA374780709 | PTGS1 | c.578C>A (p.Thr193Asn) c.251C>A (p.Thr84Asn) c.313-44C>A (n.313-44C>A) c.503C>A (p.Thr168Asn) c.434C>A (p.Thr145Asn) n.672C>A n.519+2879C>A c.*423C>A (n.*423C>A) c.304-44C>A (n.304-44C>A) c.671C>A (p.Thr224Asn) |