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 |
|---|---|---|---|---|---|
| 16 | g.48167497T>A | CA395803812 | ABCC11 | c.4055A>T (p.Lys1352Met) c.3941A>T (p.Lys1314Met) n.1355A>T c.3857A>T (p.Lys1286Met) c.3098A>T (p.Lys1033Met) c.2186A>T (p.Lys729Met) c.3947A>T (p.Lys1316Met) n.6733A>T c.4061A>T (p.Lys1354Met) | |
| 16 | g.48167497T>C | CA8042942 | ABCC11 | c.4055A>G (p.Lys1352Arg) c.3941A>G (p.Lys1314Arg) n.1355A>G c.3857A>G (p.Lys1286Arg) c.3098A>G (p.Lys1033Arg) c.2186A>G (p.Lys729Arg) c.3947A>G (p.Lys1316Arg) n.6733A>G c.4061A>G (p.Lys1354Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.48167497T>G | CA395803815 | ABCC11 | c.4055A>C (p.Lys1352Thr) c.3941A>C (p.Lys1314Thr) n.1355A>C c.3857A>C (p.Lys1286Thr) c.3098A>C (p.Lys1033Thr) c.2186A>C (p.Lys729Thr) c.3947A>C (p.Lys1316Thr) n.6733A>C c.4061A>C (p.Lys1354Thr) | dbSNP |
| 16 | g.48167497T= | CA2220652213 | ABCC11 | c.4055A= (p.Lys1352=) c.3941A= (p.Lys1314=) n.1355A= c.3857A= (p.Lys1286=) c.3098A= (p.Lys1033=) c.2186A= (p.Lys729=) c.3947A= (p.Lys1316=) n.6733A= c.4061A= (p.Lys1354=) | |
| 16 | g.48167498T>A | CA395803818 | ABCC11 | c.4054A>T (p.Lys1352Ter) c.3940A>T (p.Lys1314Ter) n.1354A>T c.3856A>T (p.Lys1286Ter) c.3097A>T (p.Lys1033Ter) c.2185A>T (p.Lys729Ter) c.3946A>T (p.Lys1316Ter) n.6732A>T c.4060A>T (p.Lys1354Ter) | |
| 16 | g.48167498T>C | CA395803821 | ABCC11 | c.4054A>G (p.Lys1352Glu) c.3940A>G (p.Lys1314Glu) n.1354A>G c.3856A>G (p.Lys1286Glu) c.3097A>G (p.Lys1033Glu) c.2185A>G (p.Lys729Glu) c.3946A>G (p.Lys1316Glu) n.6732A>G c.4060A>G (p.Lys1354Glu) | |
| 16 | g.48167498T>G | CA395803824 | ABCC11 | c.4054A>C (p.Lys1352Gln) c.3940A>C (p.Lys1314Gln) n.1354A>C c.3856A>C (p.Lys1286Gln) c.3097A>C (p.Lys1033Gln) c.2185A>C (p.Lys729Gln) c.3946A>C (p.Lys1316Gln) n.6732A>C c.4060A>C (p.Lys1354Gln) | COSMIC |
| 16 | g.48167499C>A | CA495442593 | ABCC11 | c.4053G>T (p.Gly1351=) c.3939G>T (p.Gly1313=) n.1353G>T c.3855G>T (p.Gly1285=) c.3096G>T (p.Gly1032=) c.2184G>T (p.Gly728=) c.3945G>T (p.Gly1315=) n.6731G>T c.4059G>T (p.Gly1353=) | |
| 16 | g.48167499C>G | CA495442595 | ABCC11 | c.4053G>C (p.Gly1351=) c.3939G>C (p.Gly1313=) n.1353G>C c.3855G>C (p.Gly1285=) c.3096G>C (p.Gly1032=) c.2184G>C (p.Gly728=) c.3945G>C (p.Gly1315=) n.6731G>C c.4059G>C (p.Gly1353=) | |
| 16 | g.48167499C>T | CA495442594 | ABCC11 | c.4053G>A (p.Gly1351=) c.3939G>A (p.Gly1313=) n.1353G>A c.3855G>A (p.Gly1285=) c.3096G>A (p.Gly1032=) c.2184G>A (p.Gly728=) c.3945G>A (p.Gly1315=) n.6731G>A c.4059G>A (p.Gly1353=) | |
| 16 | g.48167500C>A | CA395803827 | ABCC11 | c.4052G>T (p.Gly1351Val) c.3938G>T (p.Gly1313Val) n.1352G>T c.3854G>T (p.Gly1285Val) c.3095G>T (p.Gly1032Val) c.2183G>T (p.Gly728Val) c.3944G>T (p.Gly1315Val) n.6730G>T c.4058G>T (p.Gly1353Val) | |
| 16 | g.48167500C= | CA2220652222 | ABCC11 | c.4052G= (p.Gly1351=) c.3938G= (p.Gly1313=) n.1352G= c.3854G= (p.Gly1285=) c.3095G= (p.Gly1032=) c.2183G= (p.Gly728=) c.3944G= (p.Gly1315=) n.6730G= c.4058G= (p.Gly1353=) | |
| 16 | g.48167500C>G | CA395803830 | ABCC11 | c.4052G>C (p.Gly1351Ala) c.3938G>C (p.Gly1313Ala) n.1352G>C c.3854G>C (p.Gly1285Ala) c.3095G>C (p.Gly1032Ala) c.2183G>C (p.Gly728Ala) c.3944G>C (p.Gly1315Ala) n.6730G>C c.4058G>C (p.Gly1353Ala) | |
| 16 | g.48167500C>T | CA280260496 | ABCC11 | c.4052G>A (p.Gly1351Glu) c.3938G>A (p.Gly1313Glu) n.1352G>A c.3854G>A (p.Gly1285Glu) c.3095G>A (p.Gly1032Glu) c.2183G>A (p.Gly728Glu) c.3944G>A (p.Gly1315Glu) n.6730G>A c.4058G>A (p.Gly1353Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.48167501C>A | CA395803841 | ABCC11 | c.4051G>T (p.Gly1351Trp) c.3937G>T (p.Gly1313Trp) n.1351G>T c.3853G>T (p.Gly1285Trp) c.3094G>T (p.Gly1032Trp) c.2182G>T (p.Gly728Trp) c.3943G>T (p.Gly1315Trp) n.6729G>T c.4057G>T (p.Gly1353Trp) | |
| 16 | g.48167501C>G | CA395803839 | ABCC11 | c.4051G>C (p.Gly1351Arg) c.3937G>C (p.Gly1313Arg) n.1351G>C c.3853G>C (p.Gly1285Arg) c.3094G>C (p.Gly1032Arg) c.2182G>C (p.Gly728Arg) c.3943G>C (p.Gly1315Arg) n.6729G>C c.4057G>C (p.Gly1353Arg) | |
| 16 | g.48167501C>T | CA395803836 | ABCC11 | c.4051G>A (p.Gly1351Arg) c.3937G>A (p.Gly1313Arg) n.1351G>A c.3853G>A (p.Gly1285Arg) c.3094G>A (p.Gly1032Arg) c.2182G>A (p.Gly728Arg) c.3943G>A (p.Gly1315Arg) n.6729G>A c.4057G>A (p.Gly1353Arg) | |
| 16 | g.48167502A>C | CA395803843 | ABCC11 | c.4050T>G (p.Asn1350Lys) c.3936T>G (p.Asn1312Lys) n.1350T>G c.3852T>G (p.Asn1284Lys) c.3093T>G (p.Asn1031Lys) c.2181T>G (p.Asn727Lys) c.3942T>G (p.Asn1314Lys) n.6728T>G c.4056T>G (p.Asn1352Lys) | |
| 16 | g.48167502A>G | CA495442597 | ABCC11 | c.4050T>C (p.Asn1350=) c.3936T>C (p.Asn1312=) n.1350T>C c.3852T>C (p.Asn1284=) c.3093T>C (p.Asn1031=) c.2181T>C (p.Asn727=) c.3942T>C (p.Asn1314=) n.6728T>C c.4056T>C (p.Asn1352=) | |
| 16 | g.48167502A>T | CA395803846 | ABCC11 | c.4050T>A (p.Asn1350Lys) c.3936T>A (p.Asn1312Lys) n.1350T>A c.3852T>A (p.Asn1284Lys) c.3093T>A (p.Asn1031Lys) c.2181T>A (p.Asn727Lys) c.3942T>A (p.Asn1314Lys) n.6728T>A c.4056T>A (p.Asn1352Lys) | |
| 16 | g.48167503T>A | CA395803850 | ABCC11 | c.4049A>T (p.Asn1350Ile) c.3935A>T (p.Asn1312Ile) n.1349A>T c.3851A>T (p.Asn1284Ile) c.3092A>T (p.Asn1031Ile) c.2180A>T (p.Asn727Ile) c.3941A>T (p.Asn1314Ile) n.6727A>T c.4055A>T (p.Asn1352Ile) | |
| 16 | g.48167503T>C | CA395803853 | ABCC11 | c.4049A>G (p.Asn1350Ser) c.3935A>G (p.Asn1312Ser) n.1349A>G c.3851A>G (p.Asn1284Ser) c.3092A>G (p.Asn1031Ser) c.2180A>G (p.Asn727Ser) c.3941A>G (p.Asn1314Ser) n.6727A>G c.4055A>G (p.Asn1352Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.48167503T>G | CA395803860 | ABCC11 | c.4049A>C (p.Asn1350Thr) c.3935A>C (p.Asn1312Thr) n.1349A>C c.3851A>C (p.Asn1284Thr) c.3092A>C (p.Asn1031Thr) c.2180A>C (p.Asn727Thr) c.3941A>C (p.Asn1314Thr) n.6727A>C c.4055A>C (p.Asn1352Thr) | |
| 16 | g.48167503T= | CA2220652231 | ABCC11 | c.4049A= (p.Asn1350=) c.3935A= (p.Asn1312=) n.1349A= c.3851A= (p.Asn1284=) c.3092A= (p.Asn1031=) c.2180A= (p.Asn727=) c.3941A= (p.Asn1314=) n.6727A= c.4055A= (p.Asn1352=) | |
| 16 | g.48167504T>A | CA395803864 | ABCC11 | c.4048A>T (p.Asn1350Tyr) c.3934A>T (p.Asn1312Tyr) n.1348A>T c.3850A>T (p.Asn1284Tyr) c.3091A>T (p.Asn1031Tyr) c.2179A>T (p.Asn727Tyr) c.3940A>T (p.Asn1314Tyr) n.6726A>T c.4054A>T (p.Asn1352Tyr) | |
| 16 | g.48167504T>C | CA395803866 | ABCC11 | c.4048A>G (p.Asn1350Asp) c.3934A>G (p.Asn1312Asp) n.1348A>G c.3850A>G (p.Asn1284Asp) c.3091A>G (p.Asn1031Asp) c.2179A>G (p.Asn727Asp) c.3940A>G (p.Asn1314Asp) n.6726A>G c.4054A>G (p.Asn1352Asp) | |
| 16 | g.48167504T>G | CA395803870 | ABCC11 | c.4048A>C (p.Asn1350His) c.3934A>C (p.Asn1312His) n.1348A>C c.3850A>C (p.Asn1284His) c.3091A>C (p.Asn1031His) c.2179A>C (p.Asn727His) c.3940A>C (p.Asn1314His) n.6726A>C c.4054A>C (p.Asn1352His) | |
| 16 | g.48167505G>A | CA495442598 | ABCC11 | c.4047C>T (p.Gly1349=) c.3933C>T (p.Gly1311=) n.1347C>T c.3849C>T (p.Gly1283=) c.3090C>T (p.Gly1030=) c.2178C>T (p.Gly726=) c.3939C>T (p.Gly1313=) n.6725C>T c.4053C>T (p.Gly1351=) | dbSNP |
| 16 | g.48167505G>C | CA495442600 | ABCC11 | c.4047C>G (p.Gly1349=) c.3933C>G (p.Gly1311=) n.1347C>G c.3849C>G (p.Gly1283=) c.3090C>G (p.Gly1030=) c.2178C>G (p.Gly726=) c.3939C>G (p.Gly1313=) n.6725C>G c.4053C>G (p.Gly1351=) | |
| 16 | g.48167505G>T | CA495442601 | ABCC11 | c.4047C>A (p.Gly1349=) c.3933C>A (p.Gly1311=) n.1347C>A c.3849C>A (p.Gly1283=) c.3090C>A (p.Gly1030=) c.2178C>A (p.Gly726=) c.3939C>A (p.Gly1313=) n.6725C>A c.4053C>A (p.Gly1351=) | COSMIC |
| 16 | g.48167506C>A | CA395803874 | ABCC11 | c.4046G>T (p.Gly1349Val) c.3932G>T (p.Gly1311Val) n.1346G>T c.3848G>T (p.Gly1283Val) c.3089G>T (p.Gly1030Val) c.2177G>T (p.Gly726Val) c.3938G>T (p.Gly1313Val) n.6724G>T c.4052G>T (p.Gly1351Val) | |
| 16 | g.48167506C>G | CA395803876 | ABCC11 | c.4046G>C (p.Gly1349Ala) c.3932G>C (p.Gly1311Ala) n.1346G>C c.3848G>C (p.Gly1283Ala) c.3089G>C (p.Gly1030Ala) c.2177G>C (p.Gly726Ala) c.3938G>C (p.Gly1313Ala) n.6724G>C c.4052G>C (p.Gly1351Ala) | |
| 16 | g.48167506C>T | CA395803879 | ABCC11 | c.4046G>A (p.Gly1349Asp) c.3932G>A (p.Gly1311Asp) n.1346G>A c.3848G>A (p.Gly1283Asp) c.3089G>A (p.Gly1030Asp) c.2177G>A (p.Gly726Asp) c.3938G>A (p.Gly1313Asp) n.6724G>A c.4052G>A (p.Gly1351Asp) | dbSNP |
| 16 | g.48167507C>A | CA395803889 | ABCC11 | c.4045G>T (p.Gly1349Cys) c.3931G>T (p.Gly1311Cys) n.1345G>T c.3847G>T (p.Gly1283Cys) c.3088G>T (p.Gly1030Cys) c.2176G>T (p.Gly726Cys) c.3937G>T (p.Gly1313Cys) n.6723G>T c.4051G>T (p.Gly1351Cys) | |
| 16 | g.48167507C>G | CA395803892 | ABCC11 | c.4045G>C (p.Gly1349Arg) c.3931G>C (p.Gly1311Arg) n.1345G>C c.3847G>C (p.Gly1283Arg) c.3088G>C (p.Gly1030Arg) c.2176G>C (p.Gly726Arg) c.3937G>C (p.Gly1313Arg) n.6723G>C c.4051G>C (p.Gly1351Arg) | |
| 16 | g.48167507C>T | CA395803895 | ABCC11 | c.4045G>A (p.Gly1349Ser) c.3931G>A (p.Gly1311Ser) n.1345G>A c.3847G>A (p.Gly1283Ser) c.3088G>A (p.Gly1030Ser) c.2176G>A (p.Gly726Ser) c.3937G>A (p.Gly1313Ser) n.6723G>A c.4051G>A (p.Gly1351Ser) | dbSNP |
| 16 | g.48167508C>A | CA395803904 | ABCC11 | c.4044G>T (p.Met1348Ile) c.3930G>T (p.Met1310Ile) n.1344G>T c.3846G>T (p.Met1282Ile) c.3087G>T (p.Met1029Ile) c.2175G>T (p.Met725Ile) c.3936G>T (p.Met1312Ile) n.6722G>T c.4050G>T (p.Met1350Ile) | |
| 16 | g.48167508C>G | CA395803901 | ABCC11 | c.4044G>C (p.Met1348Ile) c.3930G>C (p.Met1310Ile) n.1344G>C c.3846G>C (p.Met1282Ile) c.3087G>C (p.Met1029Ile) c.2175G>C (p.Met725Ile) c.3936G>C (p.Met1312Ile) n.6722G>C c.4050G>C (p.Met1350Ile) | |
| 16 | g.48167508C>T | CA395803898 | ABCC11 | c.4044G>A (p.Met1348Ile) c.3930G>A (p.Met1310Ile) n.1344G>A c.3846G>A (p.Met1282Ile) c.3087G>A (p.Met1029Ile) c.2175G>A (p.Met725Ile) c.3936G>A (p.Met1312Ile) n.6722G>A c.4050G>A (p.Met1350Ile) | gnomAD v4 |
| 16 | g.48167509A>C | CA395803909 | ABCC11 | c.4043T>G (p.Met1348Arg) c.3929T>G (p.Met1310Arg) n.1343T>G c.3845T>G (p.Met1282Arg) c.3086T>G (p.Met1029Arg) c.2174T>G (p.Met725Arg) c.3935T>G (p.Met1312Arg) n.6721T>G c.4049T>G (p.Met1350Arg) | |
| 16 | g.48167509A>G | CA395803910 | ABCC11 | c.4043T>C (p.Met1348Thr) c.3929T>C (p.Met1310Thr) n.1343T>C c.3845T>C (p.Met1282Thr) c.3086T>C (p.Met1029Thr) c.2174T>C (p.Met725Thr) c.3935T>C (p.Met1312Thr) n.6721T>C c.4049T>C (p.Met1350Thr) | |
| 16 | g.48167509A>T | CA395803913 | ABCC11 | c.4043T>A (p.Met1348Lys) c.3929T>A (p.Met1310Lys) n.1343T>A c.3845T>A (p.Met1282Lys) c.3086T>A (p.Met1029Lys) c.2174T>A (p.Met725Lys) c.3935T>A (p.Met1312Lys) n.6721T>A c.4049T>A (p.Met1350Lys) | |
| 16 | g.48167510T>A | CA395803918 | ABCC11 | c.4042A>T (p.Met1348Leu) c.3928A>T (p.Met1310Leu) n.1342A>T c.3844A>T (p.Met1282Leu) c.3085A>T (p.Met1029Leu) c.2173A>T (p.Met725Leu) c.3934A>T (p.Met1312Leu) n.6720A>T c.4048A>T (p.Met1350Leu) | |
| 16 | g.48167510T>C | CA395803920 | ABCC11 | c.4042A>G (p.Met1348Val) c.3928A>G (p.Met1310Val) n.1342A>G c.3844A>G (p.Met1282Val) c.3085A>G (p.Met1029Val) c.2173A>G (p.Met725Val) c.3934A>G (p.Met1312Val) n.6720A>G c.4048A>G (p.Met1350Val) | |
| 16 | g.48167510T>G | CA395803923 | ABCC11 | c.4042A>C (p.Met1348Leu) c.3928A>C (p.Met1310Leu) n.1342A>C c.3844A>C (p.Met1282Leu) c.3085A>C (p.Met1029Leu) c.2173A>C (p.Met725Leu) c.3934A>C (p.Met1312Leu) n.6720A>C c.4048A>C (p.Met1350Leu) | |
| 16 | g.48167510_48167511delinsTA | CA2220652239 | ABCC11 | c.4041_4042delinsTA (p.Val1347=) c.3927_3928delinsTA (p.Val1309=) n.1341_1342delinsTA c.3843_3844delinsTA (p.Val1281=) c.3084_3085delinsTA (p.Val1028=) c.2172_2173delinsTA (p.Val724=) c.3933_3934delinsTA (p.Val1311=) n.6719_6720delinsTA c.4047_4048delinsTA (p.Val1349=) | |
| 16 | g.48167511A>C | CA495442606 | ABCC11 | c.4041T>G (p.Val1347=) c.3927T>G (p.Val1309=) n.1341T>G c.3843T>G (p.Val1281=) c.3084T>G (p.Val1028=) c.2172T>G (p.Val724=) c.3933T>G (p.Val1311=) n.6719T>G c.4047T>G (p.Val1349=) | |
| 16 | g.48167511A>G | CA495442608 | ABCC11 | c.4041T>C (p.Val1347=) c.3927T>C (p.Val1309=) n.1341T>C c.3843T>C (p.Val1281=) c.3084T>C (p.Val1028=) c.2172T>C (p.Val724=) c.3933T>C (p.Val1311=) n.6719T>C c.4047T>C (p.Val1349=) | |
| 16 | g.48167511A>T | CA495442609 | ABCC11 | c.4041T>A (p.Val1347=) c.3927T>A (p.Val1309=) n.1341T>A c.3843T>A (p.Val1281=) c.3084T>A (p.Val1028=) c.2172T>A (p.Val724=) c.3933T>A (p.Val1311=) n.6719T>A c.4047T>A (p.Val1349=) | |
| 16 | g.48167512del | CA2220652246 | ABCC11 | c.4041del (p.Met1348TrpfsTer7) c.3927del (p.Met1310TrpfsTer7) n.1341del c.3843del (p.Met1282TrpfsTer7) c.3084del (p.Met1029TrpfsTer7) c.2172del (p.Met725TrpfsTer7) c.3933del (p.Met1312TrpfsTer7) n.6719del c.4047del (p.Met1350TrpfsTer7) | dbSNP |