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 |
|---|---|---|---|---|---|
| 19 | g.41984939_41984941del | CA2695228880 | ATP1A3 | c.1010_1012del (p.Glu337del) c.971_973del (p.Glu324del) n.284_286del c.1004_1006del (p.Glu335del) c.881_883del (p.Glu294del) | |
| 19 | g.41984940T>A | CA406052156 | ATP1A3 | c.1010A>T (p.Glu337Val) c.971A>T (p.Glu324Val) n.284A>T c.1004A>T (p.Glu335Val) c.881A>T (p.Glu294Val) | |
| 19 | g.41984940T>C | CA204723 | ATP1A3 | c.1010A>G (p.Glu337Gly) c.971A>G (p.Glu324Gly) n.284A>G c.1004A>G (p.Glu335Gly) c.881A>G (p.Glu294Gly) | ClinVar dbSNP |
| 19 | g.41984940T>G | CA406052153 | ATP1A3 | c.1010A>C (p.Glu337Ala) c.971A>C (p.Glu324Ala) n.284A>C c.1004A>C (p.Glu335Ala) c.881A>C (p.Glu294Ala) | |
| 19 | g.41984940T= | CA2336727976 | ATP1A3 | c.1010A= (p.Glu337=) c.971A= (p.Glu324=) n.284A= c.1004A= (p.Glu335=) c.881A= (p.Glu294=) | |
| 19 | g.41984941C>A | CA406052160 | ATP1A3 | c.1009G>T (p.Glu337Ter) c.970G>T (p.Glu324Ter) n.283G>T c.1003G>T (p.Glu335Ter) c.880G>T (p.Glu294Ter) | |
| 19 | g.41984941C>G | CA406052162 | ATP1A3 | c.1009G>C (p.Glu337Gln) c.970G>C (p.Glu324Gln) n.283G>C c.1003G>C (p.Glu335Gln) c.880G>C (p.Glu294Gln) | |
| 19 | g.41984941C>T | CA406052163 | ATP1A3 | c.1009G>A (p.Glu337Lys) c.970G>A (p.Glu324Lys) n.283G>A c.1003G>A (p.Glu335Lys) c.880G>A (p.Glu294Lys) | |
| 19 | g.41984942T>A | CA507695379 | ATP1A3 | c.1008A>T (p.Pro336=) c.969A>T (p.Pro323=) n.282A>T c.1002A>T (p.Pro334=) c.879A>T (p.Pro293=) | |
| 19 | g.41984942T>C | CA507695380 | ATP1A3 | c.1008A>G (p.Pro336=) c.969A>G (p.Pro323=) n.282A>G c.1002A>G (p.Pro334=) c.879A>G (p.Pro293=) | dbSNP |
| 19 | g.41984942T>G | CA507695381 | ATP1A3 | c.1008A>C (p.Pro336=) c.969A>C (p.Pro323=) n.282A>C c.1002A>C (p.Pro334=) c.879A>C (p.Pro293=) | |
| 19 | g.41984942T= | CA2336727977 | ATP1A3 | c.1008A= (p.Pro336=) c.969A= (p.Pro323=) n.282A= c.1002A= (p.Pro334=) c.879A= (p.Pro293=) | |
| 19 | g.41984943G>A | CA406052166 | ATP1A3 | c.1007C>T (p.Pro336Leu) c.968C>T (p.Pro323Leu) n.281C>T c.1001C>T (p.Pro334Leu) c.878C>T (p.Pro293Leu) | ClinVar dbSNP |
| 19 | g.41984943G>C | CA406052168 | ATP1A3 | c.1007C>G (p.Pro336Arg) c.968C>G (p.Pro323Arg) n.281C>G c.1001C>G (p.Pro334Arg) c.878C>G (p.Pro293Arg) | |
| 19 | g.41984943G= | CA2336727978 | ATP1A3 | c.1007C= (p.Pro336=) c.968C= (p.Pro323=) n.281C= c.1001C= (p.Pro334=) c.878C= (p.Pro293=) | |
| 19 | g.41984943G>T | CA406052171 | ATP1A3 | c.1007C>A (p.Pro336Gln) c.968C>A (p.Pro323Gln) n.281C>A c.1001C>A (p.Pro334Gln) c.878C>A (p.Pro293Gln) | |
| 19 | g.41984944G>A | CA249413 | ATP1A3 | c.1006C>T (p.Pro336Ser) c.967C>T (p.Pro323Ser) n.280C>T c.1000C>T (p.Pro334Ser) c.877C>T (p.Pro293Ser) | ClinVar dbSNP |
| 19 | g.41984944G>C | CA406052174 | ATP1A3 | c.1006C>G (p.Pro336Ala) c.967C>G (p.Pro323Ala) n.280C>G c.1000C>G (p.Pro334Ala) c.877C>G (p.Pro293Ala) | |
| 19 | g.41984944G= | CA2336727979 | ATP1A3 | c.1006C= (p.Pro336=) c.967C= (p.Pro323=) n.280C= c.1000C= (p.Pro334=) c.877C= (p.Pro293=) | |
| 19 | g.41984944G>T | CA406052177 | ATP1A3 | c.1006C>A (p.Pro336Thr) c.967C>A (p.Pro323Thr) n.280C>A c.1000C>A (p.Pro334Thr) c.877C>A (p.Pro293Thr) | |
| 19 | g.41984945G>A | CA507695384 | ATP1A3 | c.1005C>T (p.Val335=) c.966C>T (p.Val322=) n.279C>T c.999C>T (p.Val333=) c.876C>T (p.Val292=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41984945G>C | CA507695383 | ATP1A3 | c.1005C>G (p.Val335=) c.966C>G (p.Val322=) n.279C>G c.999C>G (p.Val333=) c.876C>G (p.Val292=) | |
| 19 | g.41984945G= | CA2336727980 | ATP1A3 | c.1005C= (p.Val335=) c.966C= (p.Val322=) n.279C= c.999C= (p.Val333=) c.876C= (p.Val292=) | |
| 19 | g.41984945G>T | CA507695382 | ATP1A3 | c.1005C>A (p.Val335=) c.966C>A (p.Val322=) n.279C>A c.999C>A (p.Val333=) c.876C>A (p.Val292=) | |
| 19 | g.41984946A= | CA2336727981 | ATP1A3 | c.1004T= (p.Val335=) c.965T= (p.Val322=) n.278T= c.998T= (p.Val333=) c.875T= (p.Val292=) | |
| 19 | g.41984946A>C | CA406052180 | ATP1A3 | c.1004T>G (p.Val335Gly) c.965T>G (p.Val322Gly) n.278T>G c.998T>G (p.Val333Gly) c.875T>G (p.Val292Gly) | |
| 19 | g.41984946A>G | CA406052183 | ATP1A3 | c.1004T>C (p.Val335Ala) c.965T>C (p.Val322Ala) n.278T>C c.998T>C (p.Val333Ala) c.875T>C (p.Val292Ala) | |
| 19 | g.41984946A>T | CA346001 | ATP1A3 | c.1004T>A (p.Val335Asp) c.965T>A (p.Val322Asp) n.278T>A c.998T>A (p.Val333Asp) c.875T>A (p.Val292Asp) | dbSNP |
| 19 | g.41984947C>A | CA406052188 | ATP1A3 | c.1003G>T (p.Val335Phe) c.964G>T (p.Val322Phe) n.277G>T c.997G>T (p.Val333Phe) c.874G>T (p.Val292Phe) | |
| 19 | g.41984947C>G | CA406052190 | ATP1A3 | c.1003G>C (p.Val335Leu) c.964G>C (p.Val322Leu) n.277G>C c.997G>C (p.Val333Leu) c.874G>C (p.Val292Leu) | |
| 19 | g.41984947C>T | CA406052186 | ATP1A3 | c.1003G>A (p.Val335Ile) c.964G>A (p.Val322Ile) n.277G>A c.997G>A (p.Val333Ile) c.874G>A (p.Val292Ile) | |
| 19 | g.41984948A>C | CA406052192 | ATP1A3 | c.1002T>G (p.Asn334Lys) c.963T>G (p.Asn321Lys) n.276T>G c.996T>G (p.Asn332Lys) c.873T>G (p.Asn291Lys) | |
| 19 | g.41984948A>G | CA507695385 | ATP1A3 | c.1002T>C (p.Asn334=) c.963T>C (p.Asn321=) n.276T>C c.996T>C (p.Asn332=) c.873T>C (p.Asn291=) | gnomAD v4 |
| 19 | g.41984948A>T | CA406052194 | ATP1A3 | c.1002T>A (p.Asn334Lys) c.963T>A (p.Asn321Lys) n.276T>A c.996T>A (p.Asn332Lys) c.873T>A (p.Asn291Lys) | |
| 19 | g.41984949T>A | CA406052197 | ATP1A3 | c.1001A>T (p.Asn334Ile) c.962A>T (p.Asn321Ile) n.275A>T c.995A>T (p.Asn332Ile) c.872A>T (p.Asn291Ile) | ClinVar dbSNP |
| 19 | g.41984949T>C | CA406052198 | ATP1A3 | c.1001A>G (p.Asn334Ser) c.962A>G (p.Asn321Ser) n.275A>G c.995A>G (p.Asn332Ser) c.872A>G (p.Asn291Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41984949T>G | CA406052200 | ATP1A3 | c.1001A>C (p.Asn334Thr) c.962A>C (p.Asn321Thr) n.275A>C c.995A>C (p.Asn332Thr) c.872A>C (p.Asn291Thr) | |
| 19 | g.41984949T= | CA2336727982 | ATP1A3 | c.1001A= (p.Asn334=) c.962A= (p.Asn321=) n.275A= c.995A= (p.Asn332=) c.872A= (p.Asn291=) | |
| 19 | g.41984950dup | CA645620113 | ATP1A3 | c.1001dup (p.Asn334LysfsTer?) c.962dup (p.Asn321LysfsTer?) n.275dup c.995dup (p.Asn332LysfsTer?) c.872dup (p.Asn291LysfsTer?) | COSMIC |
| 19 | g.41984949_41984950insA | CA507695386 | ATP1A3 | c.1000_1001insT (p.Asn334IlefsTer?) c.961_962insT (p.Asn321IlefsTer?) n.274_275insT c.994_995insT (p.Asn332IlefsTer?) c.871_872insT (p.Asn291IlefsTer?) | |
| 19 | g.41984950T>A | CA406052207 | ATP1A3 | c.1000A>T (p.Asn334Tyr) c.961A>T (p.Asn321Tyr) n.274A>T c.994A>T (p.Asn332Tyr) c.871A>T (p.Asn291Tyr) | |
| 19 | g.41984950T>C | CA406052202 | ATP1A3 | c.1000A>G (p.Asn334Asp) c.961A>G (p.Asn321Asp) n.274A>G c.994A>G (p.Asn332Asp) c.871A>G (p.Asn291Asp) | |
| 19 | g.41984950T>G | CA406052204 | ATP1A3 | c.1000A>C (p.Asn334His) c.961A>C (p.Asn321His) n.274A>C c.994A>C (p.Asn332His) c.871A>C (p.Asn291His) | ClinVar |
| 19 | g.41984951G>A | CA507695387 | ATP1A3 | c.999C>T (p.Ala333=) c.960C>T (p.Ala320=) n.273C>T c.993C>T (p.Ala331=) c.870C>T (p.Ala290=) | |
| 19 | g.41984951G>C | CA507695388 | ATP1A3 | c.999C>G (p.Ala333=) c.960C>G (p.Ala320=) n.273C>G c.993C>G (p.Ala331=) c.870C>G (p.Ala290=) | |
| 19 | g.41984951G>T | CA507695389 | ATP1A3 | c.999C>A (p.Ala333=) c.960C>A (p.Ala320=) n.273C>A c.993C>A (p.Ala331=) c.870C>A (p.Ala290=) | |
| 19 | g.41984952G>A | CA406052209 | ATP1A3 | c.998C>T (p.Ala333Val) c.959C>T (p.Ala320Val) n.272C>T c.992C>T (p.Ala331Val) c.869C>T (p.Ala290Val) | |
| 19 | g.41984952G>C | CA406052210 | ATP1A3 | c.998C>G (p.Ala333Gly) c.959C>G (p.Ala320Gly) n.272C>G c.992C>G (p.Ala331Gly) c.869C>G (p.Ala290Gly) | |
| 19 | g.41984952G>T | CA406052213 | ATP1A3 | c.998C>A (p.Ala333Asp) c.959C>A (p.Ala320Asp) n.272C>A c.992C>A (p.Ala331Asp) c.869C>A (p.Ala290Asp) | gnomAD v4 |
| 19 | g.41984953C>A | CA406052216 | ATP1A3 | c.997G>T (p.Ala333Ser) c.958G>T (p.Ala320Ser) n.271G>T c.991G>T (p.Ala331Ser) c.868G>T (p.Ala290Ser) |