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 |
|---|---|---|---|---|---|
| 17 | g.18328785_18328786del | CA288437853 | SHMT1 | c.1422_1423del (p.Phe475ProfsTer7) c.1008_1009del (p.Phe337ProfsTer7) c.1305_1306del (p.Phe436ProfsTer7) n.1745_1746del c.*919_*920del (n.*919_*920del) c.1182_1183del (p.Phe395ProfsTer7) c.891_892del (p.Phe298ProfsTer7) c.768_769del (p.Phe257ProfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.18328782del | CA2636488175 | SHMT1 | c.1420del (p.Leu474SerfsTer?) c.1006del (p.Leu336SerfsTer?) c.1303del (p.Leu435SerfsTer?) n.1743del c.*917del (n.*917del) c.1180del (p.Leu394SerfsTer?) c.889del (p.Leu297SerfsTer?) c.766del (p.Leu256SerfsTer?) | gnomAD v4 |
| 17 | g.18328782G>A | CA170988 | SHMT1 | c.1420C>T (p.Leu474Phe) c.1006C>T (p.Leu336Phe) c.1303C>T (p.Leu435Phe) n.1743C>T c.*917C>T (n.*917C>T) c.1180C>T (p.Leu394Phe) c.889C>T (p.Leu297Phe) c.766C>T (p.Leu256Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18328782G>C | CA398629236 | SHMT1 | c.1420C>G (p.Leu474Val) c.1006C>G (p.Leu336Val) c.1303C>G (p.Leu435Val) n.1743C>G c.*917C>G (n.*917C>G) c.1180C>G (p.Leu394Val) c.889C>G (p.Leu297Val) c.766C>G (p.Leu256Val) | gnomAD v4 |
| 17 | g.18328782G= | CA2250967870 | SHMT1 | c.1420C= (p.Leu474=) c.1006C= (p.Leu336=) c.1303C= (p.Leu435=) n.1743C= c.*917C= (n.*917C=) c.1180C= (p.Leu394=) c.889C= (p.Leu297=) c.766C= (p.Leu256=) | |
| 17 | g.18328782G>T | CA398629239 | SHMT1 | c.1420C>A (p.Leu474Ile) c.1006C>A (p.Leu336Ile) c.1303C>A (p.Leu435Ile) n.1743C>A c.*917C>A (n.*917C>A) c.1180C>A (p.Leu394Ile) c.889C>A (p.Leu297Ile) c.766C>A (p.Leu256Ile) | dbSNP gnomAD v4 |
| 17 | g.18328787_18328814del | CA2808669698 | SHMT1 | c.1393_1420del (p.Arg465SerfsTer?) c.979_1006del (p.Arg327SerfsTer?) c.1276_1303del (p.Arg426SerfsTer?) n.1716_1743del c.*890_*917del (n.*890_*917del) c.1153_1180del (p.Arg385SerfsTer?) c.862_889del (p.Arg288SerfsTer?) c.739_766del (p.Arg247SerfsTer?) | |
| 17 | g.18328783A>C | CA498216021 | SHMT1 | c.1419T>G (p.Ser473=) c.1005T>G (p.Ser335=) c.1302T>G (p.Ser434=) n.1742T>G c.*916T>G (n.*916T>G) c.1179T>G (p.Ser393=) c.888T>G (p.Ser296=) c.765T>G (p.Ser255=) | |
| 17 | g.18328783A>G | CA498216020 | SHMT1 | c.1419T>C (p.Ser473=) c.1005T>C (p.Ser335=) c.1302T>C (p.Ser434=) n.1742T>C c.*916T>C (n.*916T>C) c.1179T>C (p.Ser393=) c.888T>C (p.Ser296=) c.765T>C (p.Ser255=) | |
| 17 | g.18328783A>T | CA498216019 | SHMT1 | c.1419T>A (p.Ser473=) c.1005T>A (p.Ser335=) c.1302T>A (p.Ser434=) n.1742T>A c.*916T>A (n.*916T>A) c.1179T>A (p.Ser393=) c.888T>A (p.Ser296=) c.765T>A (p.Ser255=) | |
| 17 | g.18328784del | CA2636488176 | SHMT1 | c.1418del (p.Ser473PhefsTer?) c.1004del (p.Ser335PhefsTer?) c.1301del (p.Ser434PhefsTer?) n.1741del c.*915del (n.*915del) c.1178del (p.Ser393PhefsTer?) c.887del (p.Ser296PhefsTer?) c.764del (p.Ser255PhefsTer?) | gnomAD v4 |
| 17 | g.18328784G>A | CA8431049 | SHMT1 | c.1418C>T (p.Ser473Phe) c.1004C>T (p.Ser335Phe) c.1301C>T (p.Ser434Phe) n.1741C>T c.*915C>T (n.*915C>T) c.1178C>T (p.Ser393Phe) c.887C>T (p.Ser296Phe) c.764C>T (p.Ser255Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.18328784G>C | CA398629242 | SHMT1 | c.1418C>G (p.Ser473Cys) c.1004C>G (p.Ser335Cys) c.1301C>G (p.Ser434Cys) n.1741C>G c.*915C>G (n.*915C>G) c.1178C>G (p.Ser393Cys) c.887C>G (p.Ser296Cys) c.764C>G (p.Ser255Cys) | |
| 17 | g.18328784G= | CA2250967875 | SHMT1 | c.1418C= (p.Ser473=) c.1004C= (p.Ser335=) c.1301C= (p.Ser434=) n.1741C= c.*915C= (n.*915C=) c.1178C= (p.Ser393=) c.887C= (p.Ser296=) c.764C= (p.Ser255=) | |
| 17 | g.18328784G>T | CA398629245 | SHMT1 | c.1418C>A (p.Ser473Tyr) c.1004C>A (p.Ser335Tyr) c.1301C>A (p.Ser434Tyr) n.1741C>A c.*915C>A (n.*915C>A) c.1178C>A (p.Ser393Tyr) c.887C>A (p.Ser296Tyr) c.764C>A (p.Ser255Tyr) | |
| 17 | g.18328785A>C | CA398629247 | SHMT1 | c.1417T>G (p.Ser473Ala) c.1003T>G (p.Ser335Ala) c.1300T>G (p.Ser434Ala) n.1740T>G c.*914T>G (n.*914T>G) c.1177T>G (p.Ser393Ala) c.886T>G (p.Ser296Ala) c.763T>G (p.Ser255Ala) | |
| 17 | g.18328785A>G | CA398629249 | SHMT1 | c.1417T>C (p.Ser473Pro) c.1003T>C (p.Ser335Pro) c.1300T>C (p.Ser434Pro) n.1740T>C c.*914T>C (n.*914T>C) c.1177T>C (p.Ser393Pro) c.886T>C (p.Ser296Pro) c.763T>C (p.Ser255Pro) | |
| 17 | g.18328785A>T | CA398629252 | SHMT1 | c.1417T>A (p.Ser473Thr) c.1003T>A (p.Ser335Thr) c.1300T>A (p.Ser434Thr) n.1740T>A c.*914T>A (n.*914T>A) c.1177T>A (p.Ser393Thr) c.886T>A (p.Ser296Thr) c.763T>A (p.Ser255Thr) | |
| 17 | g.18328786G>A | CA8431050 | SHMT1 | c.1416C>T (p.Ala472=) c.1002C>T (p.Ala334=) c.1299C>T (p.Ala433=) n.1739C>T c.*913C>T (n.*913C>T) c.1176C>T (p.Ala392=) c.885C>T (p.Ala295=) c.762C>T (p.Ala254=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18328786G>C | CA498216046 | SHMT1 | c.1416C>G (p.Ala472=) c.1002C>G (p.Ala334=) c.1299C>G (p.Ala433=) n.1739C>G c.*913C>G (n.*913C>G) c.1176C>G (p.Ala392=) c.885C>G (p.Ala295=) c.762C>G (p.Ala254=) | |
| 17 | g.18328786G= | CA2250967880 | SHMT1 | c.1416C= (p.Ala472=) c.1002C= (p.Ala334=) c.1299C= (p.Ala433=) n.1739C= c.*913C= (n.*913C=) c.1176C= (p.Ala392=) c.885C= (p.Ala295=) c.762C= (p.Ala254=) | |
| 17 | g.18328786G>T | CA498216049 | SHMT1 | c.1416C>A (p.Ala472=) c.1002C>A (p.Ala334=) c.1299C>A (p.Ala433=) n.1739C>A c.*913C>A (n.*913C>A) c.1176C>A (p.Ala392=) c.885C>A (p.Ala295=) c.762C>A (p.Ala254=) | |
| 17 | g.18328787G>A | CA398629258 | SHMT1 | c.1415C>T (p.Ala472Val) c.1001C>T (p.Ala334Val) c.1298C>T (p.Ala433Val) n.1738C>T c.*912C>T (n.*912C>T) c.1175C>T (p.Ala392Val) c.884C>T (p.Ala295Val) c.761C>T (p.Ala254Val) | |
| 17 | g.18328787G>C | CA398629257 | SHMT1 | c.1415C>G (p.Ala472Gly) c.1001C>G (p.Ala334Gly) c.1298C>G (p.Ala433Gly) n.1738C>G c.*912C>G (n.*912C>G) c.1175C>G (p.Ala392Gly) c.884C>G (p.Ala295Gly) c.761C>G (p.Ala254Gly) | |
| 17 | g.18328787G>T | CA398629261 | SHMT1 | c.1415C>A (p.Ala472Asp) c.1001C>A (p.Ala334Asp) c.1298C>A (p.Ala433Asp) n.1738C>A c.*912C>A (n.*912C>A) c.1175C>A (p.Ala392Asp) c.884C>A (p.Ala295Asp) c.761C>A (p.Ala254Asp) | |
| 17 | g.18328788C>A | CA398629264 | SHMT1 | c.1414G>T (p.Ala472Ser) c.1000G>T (p.Ala334Ser) c.1297G>T (p.Ala433Ser) n.1737G>T c.*911G>T (n.*911G>T) c.1174G>T (p.Ala392Ser) c.883G>T (p.Ala295Ser) c.760G>T (p.Ala254Ser) | dbSNP |
| 17 | g.18328788C= | CA2250967883 | SHMT1 | c.1414G= (p.Ala472=) c.1000G= (p.Ala334=) c.1297G= (p.Ala433=) n.1737G= c.*911G= (n.*911G=) c.1174G= (p.Ala392=) c.883G= (p.Ala295=) c.760G= (p.Ala254=) | |
| 17 | g.18328788C>G | CA398629269 | SHMT1 | c.1414G>C (p.Ala472Pro) c.1000G>C (p.Ala334Pro) c.1297G>C (p.Ala433Pro) n.1737G>C c.*911G>C (n.*911G>C) c.1174G>C (p.Ala392Pro) c.883G>C (p.Ala295Pro) c.760G>C (p.Ala254Pro) | |
| 17 | g.18328788C>T | CA8431051 | SHMT1 | c.1414G>A (p.Ala472Thr) c.1000G>A (p.Ala334Thr) c.1297G>A (p.Ala433Thr) n.1737G>A c.*911G>A (n.*911G>A) c.1174G>A (p.Ala392Thr) c.883G>A (p.Ala295Thr) c.760G>A (p.Ala254Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.18328789G>A | CA8431052 | SHMT1 | c.1413C>T (p.Phe471=) c.999C>T (p.Phe333=) c.1296C>T (p.Phe432=) n.1736C>T c.*910C>T (n.*910C>T) c.1173C>T (p.Phe391=) c.882C>T (p.Phe294=) c.759C>T (p.Phe253=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18328789G>C | CA398629272 | SHMT1 | c.1413C>G (p.Phe471Leu) c.999C>G (p.Phe333Leu) c.1296C>G (p.Phe432Leu) n.1736C>G c.*910C>G (n.*910C>G) c.1173C>G (p.Phe391Leu) c.882C>G (p.Phe294Leu) c.759C>G (p.Phe253Leu) | |
| 17 | g.18328789G= | CA2250967886 | SHMT1 | c.1413C= (p.Phe471=) c.999C= (p.Phe333=) c.1296C= (p.Phe432=) n.1736C= c.*910C= (n.*910C=) c.1173C= (p.Phe391=) c.882C= (p.Phe294=) c.759C= (p.Phe253=) | |
| 17 | g.18328789G>T | CA398629274 | SHMT1 | c.1413C>A (p.Phe471Leu) c.999C>A (p.Phe333Leu) c.1296C>A (p.Phe432Leu) n.1736C>A c.*910C>A (n.*910C>A) c.1173C>A (p.Phe391Leu) c.882C>A (p.Phe294Leu) c.759C>A (p.Phe253Leu) | |
| 17 | g.18328790A>C | CA398629278 | SHMT1 | c.1412T>G (p.Phe471Cys) c.998T>G (p.Phe333Cys) c.1295T>G (p.Phe432Cys) n.1735T>G c.*909T>G (n.*909T>G) c.1172T>G (p.Phe391Cys) c.881T>G (p.Phe294Cys) c.758T>G (p.Phe253Cys) | |
| 17 | g.18328790A>G | CA398629280 | SHMT1 | c.1412T>C (p.Phe471Ser) c.998T>C (p.Phe333Ser) c.1295T>C (p.Phe432Ser) n.1735T>C c.*909T>C (n.*909T>C) c.1172T>C (p.Phe391Ser) c.881T>C (p.Phe294Ser) c.758T>C (p.Phe253Ser) | |
| 17 | g.18328790A>T | CA398629283 | SHMT1 | c.1412T>A (p.Phe471Tyr) c.998T>A (p.Phe333Tyr) c.1295T>A (p.Phe432Tyr) n.1735T>A c.*909T>A (n.*909T>A) c.1172T>A (p.Phe391Tyr) c.881T>A (p.Phe294Tyr) c.758T>A (p.Phe253Tyr) | |
| 17 | g.18328791A>C | CA398629285 | SHMT1 | c.1411T>G (p.Phe471Val) c.997T>G (p.Phe333Val) c.1294T>G (p.Phe432Val) n.1734T>G c.*908T>G (n.*908T>G) c.1171T>G (p.Phe391Val) c.880T>G (p.Phe294Val) c.757T>G (p.Phe253Val) | |
| 17 | g.18328791A>G | CA398629289 | SHMT1 | c.1411T>C (p.Phe471Leu) c.997T>C (p.Phe333Leu) c.1294T>C (p.Phe432Leu) n.1734T>C c.*908T>C (n.*908T>C) c.1171T>C (p.Phe391Leu) c.880T>C (p.Phe294Leu) c.757T>C (p.Phe253Leu) | |
| 17 | g.18328791A>T | CA398629292 | SHMT1 | c.1411T>A (p.Phe471Ile) c.997T>A (p.Phe333Ile) c.1294T>A (p.Phe432Ile) n.1734T>A c.*908T>A (n.*908T>A) c.1171T>A (p.Phe391Ile) c.880T>A (p.Phe294Ile) c.757T>A (p.Phe253Ile) | |
| 17 | g.18328792G>A | CA498216089 | SHMT1 | c.1410C>T (p.Ser470=) c.996C>T (p.Ser332=) c.1293C>T (p.Ser431=) n.1733C>T c.*907C>T (n.*907C>T) c.1170C>T (p.Ser390=) c.879C>T (p.Ser293=) c.756C>T (p.Ser252=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.18328792G>C | CA288437886 | SHMT1 | c.1410C>G (p.Ser470Arg) c.996C>G (p.Ser332Arg) c.1293C>G (p.Ser431Arg) n.1733C>G c.*907C>G (n.*907C>G) c.1170C>G (p.Ser390Arg) c.879C>G (p.Ser293Arg) c.756C>G (p.Ser252Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.18328792G= | CA2250967890 | SHMT1 | c.1410C= (p.Ser470=) c.996C= (p.Ser332=) c.1293C= (p.Ser431=) n.1733C= c.*907C= (n.*907C=) c.1170C= (p.Ser390=) c.879C= (p.Ser293=) c.756C= (p.Ser252=) | |
| 17 | g.18328792G>T | CA398629298 | SHMT1 | c.1410C>A (p.Ser470Arg) c.996C>A (p.Ser332Arg) c.1293C>A (p.Ser431Arg) n.1733C>A c.*907C>A (n.*907C>A) c.1170C>A (p.Ser390Arg) c.879C>A (p.Ser293Arg) c.756C>A (p.Ser252Arg) | |
| 17 | g.18328793C>A | CA398629303 | SHMT1 | c.1409G>T (p.Ser470Ile) c.995G>T (p.Ser332Ile) c.1292G>T (p.Ser431Ile) n.1732G>T c.*906G>T (n.*906G>T) c.1169G>T (p.Ser390Ile) c.878G>T (p.Ser293Ile) c.755G>T (p.Ser252Ile) | |
| 17 | g.18328793C= | CA2250967893 | SHMT1 | c.1409G= (p.Ser470=) c.995G= (p.Ser332=) c.1292G= (p.Ser431=) n.1732G= c.*906G= (n.*906G=) c.1169G= (p.Ser390=) c.878G= (p.Ser293=) c.755G= (p.Ser252=) | |
| 17 | g.18328793C>G | CA398629301 | SHMT1 | c.1409G>C (p.Ser470Thr) c.995G>C (p.Ser332Thr) c.1292G>C (p.Ser431Thr) n.1732G>C c.*906G>C (n.*906G>C) c.1169G>C (p.Ser390Thr) c.878G>C (p.Ser293Thr) c.755G>C (p.Ser252Thr) | |
| 17 | g.18328793C>T | CA398629302 | SHMT1 | c.1409G>A (p.Ser470Asn) c.995G>A (p.Ser332Asn) c.1292G>A (p.Ser431Asn) n.1732G>A c.*906G>A (n.*906G>A) c.1169G>A (p.Ser390Asn) c.878G>A (p.Ser293Asn) c.755G>A (p.Ser252Asn) | dbSNP |
| 17 | g.18328794T>A | CA398629305 | SHMT1 | c.1408A>T (p.Ser470Cys) c.994A>T (p.Ser332Cys) c.1291A>T (p.Ser431Cys) n.1731A>T c.*905A>T (n.*905A>T) c.1168A>T (p.Ser390Cys) c.877A>T (p.Ser293Cys) c.754A>T (p.Ser252Cys) | |
| 17 | g.18328794T>C | CA398629308 | SHMT1 | c.1408A>G (p.Ser470Gly) c.994A>G (p.Ser332Gly) c.1291A>G (p.Ser431Gly) n.1731A>G c.*905A>G (n.*905A>G) c.1168A>G (p.Ser390Gly) c.877A>G (p.Ser293Gly) c.754A>G (p.Ser252Gly) | |
| 17 | g.18328794T>G | CA398629310 | SHMT1 | c.1408A>C (p.Ser470Arg) c.994A>C (p.Ser332Arg) c.1291A>C (p.Ser431Arg) n.1731A>C c.*905A>C (n.*905A>C) c.1168A>C (p.Ser390Arg) c.877A>C (p.Ser293Arg) c.754A>C (p.Ser252Arg) | dbSNP |