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 |
|---|---|---|---|---|---|
| 5 | g.37001042T>A | CA359519198 | NIPBL | c.3628T>A (p.Leu1210Met) c.1-63536T>A (n.1-63536T>A) c.2884T>A (p.Leu962Met) c.3430T>A (p.Leu1144Met) c.3247T>A (p.Leu1083Met) c.2968T>A (p.Leu990Met) c.2011T>A (p.Leu671Met) c.2002T>A (p.Leu668Met) | |
| 5 | g.37001042T>C | CA443904576 | NIPBL | c.3628T>C (p.Leu1210=) c.1-63536T>C (n.1-63536T>C) c.2884T>C (p.Leu962=) c.3430T>C (p.Leu1144=) c.3247T>C (p.Leu1083=) c.2968T>C (p.Leu990=) c.2011T>C (p.Leu671=) c.2002T>C (p.Leu668=) | |
| 5 | g.37001042T>G | CA359519208 | NIPBL | c.3628T>G (p.Leu1210Val) c.1-63536T>G (n.1-63536T>G) c.2884T>G (p.Leu962Val) c.3430T>G (p.Leu1144Val) c.3247T>G (p.Leu1083Val) c.2968T>G (p.Leu990Val) c.2011T>G (p.Leu671Val) c.2002T>G (p.Leu668Val) | |
| 5 | g.37001043T>A | CA359519241 | NIPBL | c.3629T>A (p.Leu1210Ter) c.1-63535T>A (n.1-63535T>A) c.2885T>A (p.Leu962Ter) c.3431T>A (p.Leu1144Ter) c.3248T>A (p.Leu1083Ter) c.2969T>A (p.Leu990Ter) c.2012T>A (p.Leu671Ter) c.2003T>A (p.Leu668Ter) | |
| 5 | g.37001043T>C | CA359519220 | NIPBL | c.3629T>C (p.Leu1210Ser) c.1-63535T>C (n.1-63535T>C) c.2885T>C (p.Leu962Ser) c.3431T>C (p.Leu1144Ser) c.3248T>C (p.Leu1083Ser) c.2969T>C (p.Leu990Ser) c.2012T>C (p.Leu671Ser) c.2003T>C (p.Leu668Ser) | |
| 5 | g.37001043T>G | CA359519215 | NIPBL | c.3629T>G (p.Leu1210Trp) c.1-63535T>G (n.1-63535T>G) c.2885T>G (p.Leu962Trp) c.3431T>G (p.Leu1144Trp) c.3248T>G (p.Leu1083Trp) c.2969T>G (p.Leu990Trp) c.2012T>G (p.Leu671Trp) c.2003T>G (p.Leu668Trp) | gnomAD v4 |
| 5 | g.37001044G>A | CA3236392 | NIPBL | c.3630G>A (p.Leu1210=) c.1-63534G>A (n.1-63534G>A) c.2886G>A (p.Leu962=) c.3432G>A (p.Leu1144=) c.3249G>A (p.Leu1083=) c.2970G>A (p.Leu990=) c.2013G>A (p.Leu671=) c.2004G>A (p.Leu668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001044G>C | CA359519251 | NIPBL | c.3630G>C (p.Leu1210Phe) c.1-63534G>C (n.1-63534G>C) c.2886G>C (p.Leu962Phe) c.3432G>C (p.Leu1144Phe) c.3249G>C (p.Leu1083Phe) c.2970G>C (p.Leu990Phe) c.2013G>C (p.Leu671Phe) c.2004G>C (p.Leu668Phe) | |
| 5 | g.37001044G= | CA1539601608 | NIPBL | c.3630G= (p.Leu1210=) c.1-63534G= (n.1-63534G=) c.2886G= (p.Leu962=) c.3432G= (p.Leu1144=) c.3249G= (p.Leu1083=) c.2970G= (p.Leu990=) c.2013G= (p.Leu671=) c.2004G= (p.Leu668=) | |
| 5 | g.37001044G>T | CA359519253 | NIPBL | c.3630G>T (p.Leu1210Phe) c.1-63534G>T (n.1-63534G>T) c.2886G>T (p.Leu962Phe) c.3432G>T (p.Leu1144Phe) c.3249G>T (p.Leu1083Phe) c.2970G>T (p.Leu990Phe) c.2013G>T (p.Leu671Phe) c.2004G>T (p.Leu668Phe) | |
| 5 | g.37001045G>A | CA359519254 | NIPBL | c.3631G>A (p.Asp1211Asn) c.1-63533G>A (n.1-63533G>A) c.2887G>A (p.Asp963Asn) c.3433G>A (p.Asp1145Asn) c.3250G>A (p.Asp1084Asn) c.2971G>A (p.Asp991Asn) c.2014G>A (p.Asp672Asn) c.2005G>A (p.Asp669Asn) | |
| 5 | g.37001045G>C | CA359519257 | NIPBL | c.3631G>C (p.Asp1211His) c.1-63533G>C (n.1-63533G>C) c.2887G>C (p.Asp963His) c.3433G>C (p.Asp1145His) c.3250G>C (p.Asp1084His) c.2971G>C (p.Asp991His) c.2014G>C (p.Asp672His) c.2005G>C (p.Asp669His) | |
| 5 | g.37001045G>T | CA359519266 | NIPBL | c.3631G>T (p.Asp1211Tyr) c.1-63533G>T (n.1-63533G>T) c.2887G>T (p.Asp963Tyr) c.3433G>T (p.Asp1145Tyr) c.3250G>T (p.Asp1084Tyr) c.2971G>T (p.Asp991Tyr) c.2014G>T (p.Asp672Tyr) c.2005G>T (p.Asp669Tyr) | |
| 5 | g.37001046A>C | CA359519271 | NIPBL | c.3632A>C (p.Asp1211Ala) c.1-63532A>C (n.1-63532A>C) c.2888A>C (p.Asp963Ala) c.3434A>C (p.Asp1145Ala) c.3251A>C (p.Asp1084Ala) c.2972A>C (p.Asp991Ala) c.2015A>C (p.Asp672Ala) c.2006A>C (p.Asp669Ala) | |
| 5 | g.37001046A>G | CA359519275 | NIPBL | c.3632A>G (p.Asp1211Gly) c.1-63532A>G (n.1-63532A>G) c.2888A>G (p.Asp963Gly) c.3434A>G (p.Asp1145Gly) c.3251A>G (p.Asp1084Gly) c.2972A>G (p.Asp991Gly) c.2015A>G (p.Asp672Gly) c.2006A>G (p.Asp669Gly) | gnomAD v4 |
| 5 | g.37001046A>T | CA359519285 | NIPBL | c.3632A>T (p.Asp1211Val) c.1-63532A>T (n.1-63532A>T) c.2888A>T (p.Asp963Val) c.3434A>T (p.Asp1145Val) c.3251A>T (p.Asp1084Val) c.2972A>T (p.Asp991Val) c.2015A>T (p.Asp672Val) c.2006A>T (p.Asp669Val) | gnomAD v4 |
| 5 | g.37001047T>A | CA359519289 | NIPBL | c.3633T>A (p.Asp1211Glu) c.1-63531T>A (n.1-63531T>A) c.2889T>A (p.Asp963Glu) c.3435T>A (p.Asp1145Glu) c.3252T>A (p.Asp1084Glu) c.2973T>A (p.Asp991Glu) c.2016T>A (p.Asp672Glu) c.2007T>A (p.Asp669Glu) | |
| 5 | g.37001047T>C | CA117056635 | NIPBL | c.3633T>C (p.Asp1211=) c.1-63531T>C (n.1-63531T>C) c.2889T>C (p.Asp963=) c.3435T>C (p.Asp1145=) c.3252T>C (p.Asp1084=) c.2973T>C (p.Asp991=) c.2016T>C (p.Asp672=) c.2007T>C (p.Asp669=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001047T>G | CA359519291 | NIPBL | c.3633T>G (p.Asp1211Glu) c.1-63531T>G (n.1-63531T>G) c.2889T>G (p.Asp963Glu) c.3435T>G (p.Asp1145Glu) c.3252T>G (p.Asp1084Glu) c.2973T>G (p.Asp991Glu) c.2016T>G (p.Asp672Glu) c.2007T>G (p.Asp669Glu) | |
| 5 | g.37001047T= | CA1539601610 | NIPBL | c.3633T= (p.Asp1211=) c.1-63531T= (n.1-63531T=) c.2889T= (p.Asp963=) c.3435T= (p.Asp1145=) c.3252T= (p.Asp1084=) c.2973T= (p.Asp991=) c.2016T= (p.Asp672=) c.2007T= (p.Asp669=) | |
| 5 | g.37001048A>C | CA359519302 | NIPBL | c.3634A>C (p.Asn1212His) c.1-63530A>C (n.1-63530A>C) c.2890A>C (p.Asn964His) c.3436A>C (p.Asn1146His) c.3253A>C (p.Asn1085His) c.2974A>C (p.Asn992His) c.2017A>C (p.Asn673His) c.2008A>C (p.Asn670His) | |
| 5 | g.37001048A>G | CA359519301 | NIPBL | c.3634A>G (p.Asn1212Asp) c.1-63530A>G (n.1-63530A>G) c.2890A>G (p.Asn964Asp) c.3436A>G (p.Asn1146Asp) c.3253A>G (p.Asn1085Asp) c.2974A>G (p.Asn992Asp) c.2017A>G (p.Asn673Asp) c.2008A>G (p.Asn670Asp) | |
| 5 | g.37001048A>T | CA359519296 | NIPBL | c.3634A>T (p.Asn1212Tyr) c.1-63530A>T (n.1-63530A>T) c.2890A>T (p.Asn964Tyr) c.3436A>T (p.Asn1146Tyr) c.3253A>T (p.Asn1085Tyr) c.2974A>T (p.Asn992Tyr) c.2017A>T (p.Asn673Tyr) c.2008A>T (p.Asn670Tyr) | |
| 5 | g.37001049A>C | CA359519303 | NIPBL | c.3635A>C (p.Asn1212Thr) c.1-63529A>C (n.1-63529A>C) c.2891A>C (p.Asn964Thr) c.3437A>C (p.Asn1146Thr) c.3254A>C (p.Asn1085Thr) c.2975A>C (p.Asn992Thr) c.2018A>C (p.Asn673Thr) c.2009A>C (p.Asn670Thr) | |
| 5 | g.37001049A>G | CA359519304 | NIPBL | c.3635A>G (p.Asn1212Ser) c.1-63529A>G (n.1-63529A>G) c.2891A>G (p.Asn964Ser) c.3437A>G (p.Asn1146Ser) c.3254A>G (p.Asn1085Ser) c.2975A>G (p.Asn992Ser) c.2018A>G (p.Asn673Ser) c.2009A>G (p.Asn670Ser) | |
| 5 | g.37001049A>T | CA359519308 | NIPBL | c.3635A>T (p.Asn1212Ile) c.1-63529A>T (n.1-63529A>T) c.2891A>T (p.Asn964Ile) c.3437A>T (p.Asn1146Ile) c.3254A>T (p.Asn1085Ile) c.2975A>T (p.Asn992Ile) c.2018A>T (p.Asn673Ile) c.2009A>T (p.Asn670Ile) | |
| 5 | g.37001050T>A | CA359519318 | NIPBL | c.3636T>A (p.Asn1212Lys) c.1-63528T>A (n.1-63528T>A) c.2892T>A (p.Asn964Lys) c.3438T>A (p.Asn1146Lys) c.3255T>A (p.Asn1085Lys) c.2976T>A (p.Asn992Lys) c.2019T>A (p.Asn673Lys) c.2010T>A (p.Asn670Lys) | |
| 5 | g.37001050T>C | CA443904577 | NIPBL | c.3636T>C (p.Asn1212=) c.1-63528T>C (n.1-63528T>C) c.2892T>C (p.Asn964=) c.3438T>C (p.Asn1146=) c.3255T>C (p.Asn1085=) c.2976T>C (p.Asn992=) c.2019T>C (p.Asn673=) c.2010T>C (p.Asn670=) | |
| 5 | g.37001050T>G | CA359519327 | NIPBL | c.3636T>G (p.Asn1212Lys) c.1-63528T>G (n.1-63528T>G) c.2892T>G (p.Asn964Lys) c.3438T>G (p.Asn1146Lys) c.3255T>G (p.Asn1085Lys) c.2976T>G (p.Asn992Lys) c.2019T>G (p.Asn673Lys) c.2010T>G (p.Asn670Lys) | |
| 5 | g.37001051T>A | CA359519337 | NIPBL | c.3637T>A (p.Leu1213Met) c.1-63527T>A (n.1-63527T>A) c.2893T>A (p.Leu965Met) c.3439T>A (p.Leu1147Met) c.3256T>A (p.Leu1086Met) c.2977T>A (p.Leu993Met) c.2020T>A (p.Leu674Met) c.2011T>A (p.Leu671Met) | |
| 5 | g.37001051T>C | CA443904578 | NIPBL | c.3637T>C (p.Leu1213=) c.1-63527T>C (n.1-63527T>C) c.2893T>C (p.Leu965=) c.3439T>C (p.Leu1147=) c.3256T>C (p.Leu1086=) c.2977T>C (p.Leu993=) c.2020T>C (p.Leu674=) c.2011T>C (p.Leu671=) | dbSNP |
| 5 | g.37001051T>G | CA359519343 | NIPBL | c.3637T>G (p.Leu1213Val) c.1-63527T>G (n.1-63527T>G) c.2893T>G (p.Leu965Val) c.3439T>G (p.Leu1147Val) c.3256T>G (p.Leu1086Val) c.2977T>G (p.Leu993Val) c.2020T>G (p.Leu674Val) c.2011T>G (p.Leu671Val) | |
| 5 | g.37001051T= | CA1539601616 | NIPBL | c.3637T= (p.Leu1213=) c.1-63527T= (n.1-63527T=) c.2893T= (p.Leu965=) c.3439T= (p.Leu1147=) c.3256T= (p.Leu1086=) c.2977T= (p.Leu993=) c.2020T= (p.Leu674=) c.2011T= (p.Leu671=) | |
| 5 | g.37001052T>A | CA359519350 | NIPBL | c.3638T>A (p.Leu1213Ter) c.1-63526T>A (n.1-63526T>A) c.2894T>A (p.Leu965Ter) c.3440T>A (p.Leu1147Ter) c.3257T>A (p.Leu1086Ter) c.2978T>A (p.Leu993Ter) c.2021T>A (p.Leu674Ter) c.2012T>A (p.Leu671Ter) | |
| 5 | g.37001052T>C | CA359519353 | NIPBL | c.3638T>C (p.Leu1213Ser) c.1-63526T>C (n.1-63526T>C) c.2894T>C (p.Leu965Ser) c.3440T>C (p.Leu1147Ser) c.3257T>C (p.Leu1086Ser) c.2978T>C (p.Leu993Ser) c.2021T>C (p.Leu674Ser) c.2012T>C (p.Leu671Ser) | |
| 5 | g.37001052T>G | CA359519356 | NIPBL | c.3638T>G (p.Leu1213Trp) c.1-63526T>G (n.1-63526T>G) c.2894T>G (p.Leu965Trp) c.3440T>G (p.Leu1147Trp) c.3257T>G (p.Leu1086Trp) c.2978T>G (p.Leu993Trp) c.2021T>G (p.Leu674Trp) c.2012T>G (p.Leu671Trp) | |
| 5 | g.37001053G>A | CA443904579 | NIPBL | c.3639G>A (p.Leu1213=) c.1-63525G>A (n.1-63525G>A) c.2895G>A (p.Leu965=) c.3441G>A (p.Leu1147=) c.3258G>A (p.Leu1086=) c.2979G>A (p.Leu993=) c.2022G>A (p.Leu674=) c.2013G>A (p.Leu671=) | |
| 5 | g.37001053G>C | CA359519361 | NIPBL | c.3639G>C (p.Leu1213Phe) c.1-63525G>C (n.1-63525G>C) c.2895G>C (p.Leu965Phe) c.3441G>C (p.Leu1147Phe) c.3258G>C (p.Leu1086Phe) c.2979G>C (p.Leu993Phe) c.2022G>C (p.Leu674Phe) c.2013G>C (p.Leu671Phe) | |
| 5 | g.37001053G>T | CA359519366 | NIPBL | c.3639G>T (p.Leu1213Phe) c.1-63525G>T (n.1-63525G>T) c.2895G>T (p.Leu965Phe) c.3441G>T (p.Leu1147Phe) c.3258G>T (p.Leu1086Phe) c.2979G>T (p.Leu993Phe) c.2022G>T (p.Leu674Phe) c.2013G>T (p.Leu671Phe) | |
| 5 | g.37001054G>A | CA359519389 | NIPBL | c.3640G>A (p.Glu1214Lys) c.1-63524G>A (n.1-63524G>A) c.2896G>A (p.Glu966Lys) c.3442G>A (p.Glu1148Lys) c.3259G>A (p.Glu1087Lys) c.2980G>A (p.Glu994Lys) c.2023G>A (p.Glu675Lys) c.2014G>A (p.Glu672Lys) | |
| 5 | g.37001054G>C | CA359519386 | NIPBL | c.3640G>C (p.Glu1214Gln) c.1-63524G>C (n.1-63524G>C) c.2896G>C (p.Glu966Gln) c.3442G>C (p.Glu1148Gln) c.3259G>C (p.Glu1087Gln) c.2980G>C (p.Glu994Gln) c.2023G>C (p.Glu675Gln) c.2014G>C (p.Glu672Gln) | |
| 5 | g.37001054G>T | CA359519377 | NIPBL | c.3640G>T (p.Glu1214Ter) c.1-63524G>T (n.1-63524G>T) c.2896G>T (p.Glu966Ter) c.3442G>T (p.Glu1148Ter) c.3259G>T (p.Glu1087Ter) c.2980G>T (p.Glu994Ter) c.2023G>T (p.Glu675Ter) c.2014G>T (p.Glu672Ter) | |
| 5 | g.37001055A>C | CA359519393 | NIPBL | c.3641A>C (p.Glu1214Ala) c.1-63523A>C (n.1-63523A>C) c.2897A>C (p.Glu966Ala) c.3443A>C (p.Glu1148Ala) c.3260A>C (p.Glu1087Ala) c.2981A>C (p.Glu994Ala) c.2024A>C (p.Glu675Ala) c.2015A>C (p.Glu672Ala) | |
| 5 | g.37001055A>G | CA359519394 | NIPBL | c.3641A>G (p.Glu1214Gly) c.1-63523A>G (n.1-63523A>G) c.2897A>G (p.Glu966Gly) c.3443A>G (p.Glu1148Gly) c.3260A>G (p.Glu1087Gly) c.2981A>G (p.Glu994Gly) c.2024A>G (p.Glu675Gly) c.2015A>G (p.Glu672Gly) | |
| 5 | g.37001055A>T | CA359519395 | NIPBL | c.3641A>T (p.Glu1214Val) c.1-63523A>T (n.1-63523A>T) c.2897A>T (p.Glu966Val) c.3443A>T (p.Glu1148Val) c.3260A>T (p.Glu1087Val) c.2981A>T (p.Glu994Val) c.2024A>T (p.Glu675Val) c.2015A>T (p.Glu672Val) | |
| 5 | g.37001056A= | CA1539601622 | NIPBL | c.3642A= (p.Glu1214=) c.1-63522A= (n.1-63522A=) c.2898A= (p.Glu966=) c.3444A= (p.Glu1148=) c.3261A= (p.Glu1087=) c.2982A= (p.Glu994=) c.2025A= (p.Glu675=) c.2016A= (p.Glu672=) | |
| 5 | g.37001056A>C | CA359519401 | NIPBL | c.3642A>C (p.Glu1214Asp) c.1-63522A>C (n.1-63522A>C) c.2898A>C (p.Glu966Asp) c.3444A>C (p.Glu1148Asp) c.3261A>C (p.Glu1087Asp) c.2982A>C (p.Glu994Asp) c.2025A>C (p.Glu675Asp) c.2016A>C (p.Glu672Asp) | |
| 5 | g.37001056A>G | CA117056643 | NIPBL | c.3642A>G (p.Glu1214=) c.1-63522A>G (n.1-63522A>G) c.2898A>G (p.Glu966=) c.3444A>G (p.Glu1148=) c.3261A>G (p.Glu1087=) c.2982A>G (p.Glu994=) c.2025A>G (p.Glu675=) c.2016A>G (p.Glu672=) | dbSNP |
| 5 | g.37001056A>T | CA359519403 | NIPBL | c.3642A>T (p.Glu1214Asp) c.1-63522A>T (n.1-63522A>T) c.2898A>T (p.Glu966Asp) c.3444A>T (p.Glu1148Asp) c.3261A>T (p.Glu1087Asp) c.2982A>T (p.Glu994Asp) c.2025A>T (p.Glu675Asp) c.2016A>T (p.Glu672Asp) | |
| 5 | g.37001057G>A | CA359519410 | NIPBL | c.3643G>A (p.Asp1215Asn) c.1-63521G>A (n.1-63521G>A) c.2899G>A (p.Asp967Asn) c.3445G>A (p.Asp1149Asn) c.3262G>A (p.Asp1088Asn) c.2983G>A (p.Asp995Asn) c.2026G>A (p.Asp676Asn) c.2017G>A (p.Asp673Asn) |