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 |
|---|---|---|---|---|---|
| 21 | g.46367083G>A | CA10079174 | PCNT | c.*1605G>A (n.*1605G>A) n.3195G>A c.3109G>A (p.Glu1037Lys) c.*2352G>A (n.*2352G>A) n.3378G>A c.2755G>A (p.Glu919Lys) c.3190G>A (p.Glu1064Lys) c.1993G>A (p.Glu665Lys) c.889G>A (p.Glu297Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.46367083G>C | CA410570490 | PCNT | c.*1605G>C (n.*1605G>C) n.3195G>C c.3109G>C (p.Glu1037Gln) c.*2352G>C (n.*2352G>C) n.3378G>C c.2755G>C (p.Glu919Gln) c.3190G>C (p.Glu1064Gln) c.1993G>C (p.Glu665Gln) c.889G>C (p.Glu297Gln) | |
| 21 | g.46367083G= | CA2392640256 | PCNT | c.*1605G= (n.*1605G=) n.3195G= c.3109G= (p.Glu1037=) c.*2352G= (n.*2352G=) n.3378G= c.2755G= (p.Glu919=) c.3190G= (p.Glu1064=) c.1993G= (p.Glu665=) c.889G= (p.Glu297=) | |
| 21 | g.46367083G>T | CA250512 | PCNT | c.*1605G>T (n.*1605G>T) n.3195G>T c.3109G>T (p.Glu1037Ter) c.*2352G>T (n.*2352G>T) n.3378G>T c.2755G>T (p.Glu919Ter) c.3190G>T (p.Glu1064Ter) c.1993G>T (p.Glu665Ter) c.889G>T (p.Glu297Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.46367084A>C | CA410570493 | PCNT | c.*1606A>C (n.*1606A>C) n.3196A>C c.3110A>C (p.Glu1037Ala) c.*2353A>C (n.*2353A>C) n.3379A>C c.2756A>C (p.Glu919Ala) c.3191A>C (p.Glu1064Ala) c.1994A>C (p.Glu665Ala) c.890A>C (p.Glu297Ala) | gnomAD v4 |
| 21 | g.46367084A>G | CA410570495 | PCNT | c.*1606A>G (n.*1606A>G) n.3196A>G c.3110A>G (p.Glu1037Gly) c.*2353A>G (n.*2353A>G) n.3379A>G c.2756A>G (p.Glu919Gly) c.3191A>G (p.Glu1064Gly) c.1994A>G (p.Glu665Gly) c.890A>G (p.Glu297Gly) | |
| 21 | g.46367084A>T | CA410570496 | PCNT | c.*1606A>T (n.*1606A>T) n.3196A>T c.3110A>T (p.Glu1037Val) c.*2353A>T (n.*2353A>T) n.3379A>T c.2756A>T (p.Glu919Val) c.3191A>T (p.Glu1064Val) c.1994A>T (p.Glu665Val) c.890A>T (p.Glu297Val) | |
| 21 | g.46367085A>C | CA410570498 | PCNT | c.*1607A>C (n.*1607A>C) n.3197A>C c.3111A>C (p.Glu1037Asp) c.*2354A>C (n.*2354A>C) n.3380A>C c.2757A>C (p.Glu919Asp) c.3192A>C (p.Glu1064Asp) c.1995A>C (p.Glu665Asp) c.891A>C (p.Glu297Asp) | |
| 21 | g.46367085A>G | CA512734516 | PCNT | c.*1607A>G (n.*1607A>G) n.3197A>G c.3111A>G (p.Glu1037=) c.*2354A>G (n.*2354A>G) n.3380A>G c.2757A>G (p.Glu919=) c.3192A>G (p.Glu1064=) c.1995A>G (p.Glu665=) c.891A>G (p.Glu297=) | gnomAD v4 |
| 21 | g.46367085A>T | CA410570499 | PCNT | c.*1607A>T (n.*1607A>T) n.3197A>T c.3111A>T (p.Glu1037Asp) c.*2354A>T (n.*2354A>T) n.3380A>T c.2757A>T (p.Glu919Asp) c.3192A>T (p.Glu1064Asp) c.1995A>T (p.Glu665Asp) c.891A>T (p.Glu297Asp) | |
| 21 | g.46367085_46367086insCACACCCAACACA | CA2818110751 | PCNT | c.*1607_*1608insCACACCCAACACA (n.*1607_*1608insCACACCCAACACA) n.3197_3198insCACACCCAACACA c.3111_3112insCACACCCAACACA (p.Val1038HisfsTer24) c.*2354_*2355insCACACCCAACACA (n.*2354_*2355insCACACCCAACACA) n.3380_3381insCACACCCAACACA c.2757_2758insCACACCCAACACA (p.Val920HisfsTer24) c.3192_3193insCACACCCAACACA (p.Val1065HisfsTer24) c.1995_1996insCACACCCAACACA (p.Val666HisfsTer24) c.891_892insCACACCCAACACA (p.Val298HisfsTer24) | |
| 21 | g.46367086G>A | CA410570500 | PCNT | c.*1608G>A (n.*1608G>A) n.3198G>A c.3112G>A (p.Val1038Met) c.*2355G>A (n.*2355G>A) n.3381G>A c.2758G>A (p.Val920Met) c.3193G>A (p.Val1065Met) c.1996G>A (p.Val666Met) c.892G>A (p.Val298Met) | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.46367086G>C | CA410570502 | PCNT | c.*1608G>C (n.*1608G>C) n.3198G>C c.3112G>C (p.Val1038Leu) c.*2355G>C (n.*2355G>C) n.3381G>C c.2758G>C (p.Val920Leu) c.3193G>C (p.Val1065Leu) c.1996G>C (p.Val666Leu) c.892G>C (p.Val298Leu) | gnomAD v4 |
| 21 | g.46367086G= | CA2392640257 | PCNT | c.*1608G= (n.*1608G=) n.3198G= c.3112G= (p.Val1038=) c.*2355G= (n.*2355G=) n.3381G= c.2758G= (p.Val920=) c.3193G= (p.Val1065=) c.1996G= (p.Val666=) c.892G= (p.Val298=) | |
| 21 | g.46367086G>T | CA410570504 | PCNT | c.*1608G>T (n.*1608G>T) n.3198G>T c.3112G>T (p.Val1038Leu) c.*2355G>T (n.*2355G>T) n.3381G>T c.2758G>T (p.Val920Leu) c.3193G>T (p.Val1065Leu) c.1996G>T (p.Val666Leu) c.892G>T (p.Val298Leu) | |
| 21 | g.46367087T>A | CA410570508 | PCNT | c.*1609T>A (n.*1609T>A) n.3199T>A c.3113T>A (p.Val1038Glu) c.*2356T>A (n.*2356T>A) n.3382T>A c.2759T>A (p.Val920Glu) c.3194T>A (p.Val1065Glu) c.1997T>A (p.Val666Glu) c.893T>A (p.Val298Glu) | dbSNP |
| 21 | g.46367087T>C | CA172989 | PCNT | c.*1609T>C (n.*1609T>C) n.3199T>C c.3113T>C (p.Val1038Ala) c.*2356T>C (n.*2356T>C) n.3382T>C c.2759T>C (p.Val920Ala) c.3194T>C (p.Val1065Ala) c.1997T>C (p.Val666Ala) c.893T>C (p.Val298Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46367087T>G | CA410570507 | PCNT | c.*1609T>G (n.*1609T>G) n.3199T>G c.3113T>G (p.Val1038Gly) c.*2356T>G (n.*2356T>G) n.3382T>G c.2759T>G (p.Val920Gly) c.3194T>G (p.Val1065Gly) c.1997T>G (p.Val666Gly) c.893T>G (p.Val298Gly) | |
| 21 | g.46367087T= | CA2392640258 | PCNT | c.*1609T= (n.*1609T=) n.3199T= c.3113T= (p.Val1038=) c.*2356T= (n.*2356T=) n.3382T= c.2759T= (p.Val920=) c.3194T= (p.Val1065=) c.1997T= (p.Val666=) c.893T= (p.Val298=) | |
| 21 | g.46367087_46367117del | CA2740094749 | PCNT | c.*1609_*1639del (n.*1609_*1639del) n.3199_3229del c.3113_3143del (p.Val1038AlafsTer?) c.*2356_*2386del (n.*2356_*2386del) n.3382_3412del c.2759_2789del (p.Val920AlafsTer?) c.3194_3224del (p.Val1065AlafsTer?) c.1997_2027del (p.Val666AlafsTer?) c.893_923del (p.Val298AlafsTer?) | ClinVar |
| 21 | g.46367088del | CA2655020869 | PCNT | c.*1610del (n.*1610del) n.3200del c.3114del (p.Ser1039AlafsTer?) c.*2357del (n.*2357del) n.3383del c.2760del (p.Ser921AlafsTer?) c.3195del (p.Ser1066AlafsTer?) c.1998del (p.Ser667AlafsTer?) c.894del (p.Ser299AlafsTer?) | gnomAD v4 |
| 21 | g.46367088G>A | CA10079175 | PCNT | c.*1610G>A (n.*1610G>A) n.3200G>A c.3114G>A (p.Val1038=) c.*2357G>A (n.*2357G>A) n.3383G>A c.2760G>A (p.Val920=) c.3195G>A (p.Val1065=) c.1998G>A (p.Val666=) c.894G>A (p.Val298=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.46367088G>C | CA512734518 | PCNT | c.*1610G>C (n.*1610G>C) n.3200G>C c.3114G>C (p.Val1038=) c.*2357G>C (n.*2357G>C) n.3383G>C c.2760G>C (p.Val920=) c.3195G>C (p.Val1065=) c.1998G>C (p.Val666=) c.894G>C (p.Val298=) | |
| 21 | g.46367088G= | CA2392640259 | PCNT | c.*1610G= (n.*1610G=) n.3200G= c.3114G= (p.Val1038=) c.*2357G= (n.*2357G=) n.3383G= c.2760G= (p.Val920=) c.3195G= (p.Val1065=) c.1998G= (p.Val666=) c.894G= (p.Val298=) | |
| 21 | g.46367088G>T | CA512734519 | PCNT | c.*1610G>T (n.*1610G>T) n.3200G>T c.3114G>T (p.Val1038=) c.*2357G>T (n.*2357G>T) n.3383G>T c.2760G>T (p.Val920=) c.3195G>T (p.Val1065=) c.1998G>T (p.Val666=) c.894G>T (p.Val298=) | |
| 21 | g.46367089A>C | CA410570512 | PCNT | c.*1611A>C (n.*1611A>C) n.3201A>C c.3115A>C (p.Ser1039Arg) c.*2358A>C (n.*2358A>C) n.3384A>C c.2761A>C (p.Ser921Arg) c.3196A>C (p.Ser1066Arg) c.1999A>C (p.Ser667Arg) c.895A>C (p.Ser299Arg) | |
| 21 | g.46367089A>G | CA410570513 | PCNT | c.*1611A>G (n.*1611A>G) n.3201A>G c.3115A>G (p.Ser1039Gly) c.*2358A>G (n.*2358A>G) n.3384A>G c.2761A>G (p.Ser921Gly) c.3196A>G (p.Ser1066Gly) c.1999A>G (p.Ser667Gly) c.895A>G (p.Ser299Gly) | dbSNP |
| 21 | g.46367089A>T | CA410570515 | PCNT | c.*1611A>T (n.*1611A>T) n.3201A>T c.3115A>T (p.Ser1039Cys) c.*2358A>T (n.*2358A>T) n.3384A>T c.2761A>T (p.Ser921Cys) c.3196A>T (p.Ser1066Cys) c.1999A>T (p.Ser667Cys) c.895A>T (p.Ser299Cys) | |
| 21 | g.46367090G>A | CA410570517 | PCNT | c.*1612G>A (n.*1612G>A) n.3202G>A c.3116G>A (p.Ser1039Asn) c.*2359G>A (n.*2359G>A) n.3385G>A c.2762G>A (p.Ser921Asn) c.3197G>A (p.Ser1066Asn) c.2000G>A (p.Ser667Asn) c.896G>A (p.Ser299Asn) | gnomAD v4 COSMIC |
| 21 | g.46367090G>C | CA410570519 | PCNT | c.*1612G>C (n.*1612G>C) n.3202G>C c.3116G>C (p.Ser1039Thr) c.*2359G>C (n.*2359G>C) n.3385G>C c.2762G>C (p.Ser921Thr) c.3197G>C (p.Ser1066Thr) c.2000G>C (p.Ser667Thr) c.896G>C (p.Ser299Thr) | |
| 21 | g.46367090G>T | CA410570520 | PCNT | c.*1612G>T (n.*1612G>T) n.3202G>T c.3116G>T (p.Ser1039Ile) c.*2359G>T (n.*2359G>T) n.3385G>T c.2762G>T (p.Ser921Ile) c.3197G>T (p.Ser1066Ile) c.2000G>T (p.Ser667Ile) c.896G>T (p.Ser299Ile) | |
| 21 | g.46367091C>A | CA410570523 | PCNT | c.*1613C>A (n.*1613C>A) n.3203C>A c.3117C>A (p.Ser1039Arg) c.*2360C>A (n.*2360C>A) n.3386C>A c.2763C>A (p.Ser921Arg) c.3198C>A (p.Ser1066Arg) c.2001C>A (p.Ser667Arg) c.897C>A (p.Ser299Arg) | gnomAD v4 |
| 21 | g.46367091C>G | CA410570525 | PCNT | c.*1613C>G (n.*1613C>G) n.3203C>G c.3117C>G (p.Ser1039Arg) c.*2360C>G (n.*2360C>G) n.3386C>G c.2763C>G (p.Ser921Arg) c.3198C>G (p.Ser1066Arg) c.2001C>G (p.Ser667Arg) c.897C>G (p.Ser299Arg) | |
| 21 | g.46367091C>T | CA512734523 | PCNT | c.*1613C>T (n.*1613C>T) n.3203C>T c.3117C>T (p.Ser1039=) c.*2360C>T (n.*2360C>T) n.3386C>T c.2763C>T (p.Ser921=) c.3198C>T (p.Ser1066=) c.2001C>T (p.Ser667=) c.897C>T (p.Ser299=) | |
| 21 | g.46367092A= | CA2392640260 | PCNT | c.*1614A= (n.*1614A=) n.3204A= c.3118A= (p.Thr1040=) c.*2361A= (n.*2361A=) n.3387A= c.2764A= (p.Thr922=) c.3199A= (p.Thr1067=) c.2002A= (p.Thr668=) c.898A= (p.Thr300=) | |
| 21 | g.46367092A>C | CA410570527 | PCNT | c.*1614A>C (n.*1614A>C) n.3204A>C c.3118A>C (p.Thr1040Pro) c.*2361A>C (n.*2361A>C) n.3387A>C c.2764A>C (p.Thr922Pro) c.3199A>C (p.Thr1067Pro) c.2002A>C (p.Thr668Pro) c.898A>C (p.Thr300Pro) | |
| 21 | g.46367092A>G | CA322006005 | PCNT | c.*1614A>G (n.*1614A>G) n.3204A>G c.3118A>G (p.Thr1040Ala) c.*2361A>G (n.*2361A>G) n.3387A>G c.2764A>G (p.Thr922Ala) c.3199A>G (p.Thr1067Ala) c.2002A>G (p.Thr668Ala) c.898A>G (p.Thr300Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.46367092A>T | CA410570530 | PCNT | c.*1614A>T (n.*1614A>T) n.3204A>T c.3118A>T (p.Thr1040Ser) c.*2361A>T (n.*2361A>T) n.3387A>T c.2764A>T (p.Thr922Ser) c.3199A>T (p.Thr1067Ser) c.2002A>T (p.Thr668Ser) c.898A>T (p.Thr300Ser) | gnomAD v4 |
| 21 | g.46367093C>A | CA410570533 | PCNT | c.*1615C>A (n.*1615C>A) n.3205C>A c.3119C>A (p.Thr1040Lys) c.*2362C>A (n.*2362C>A) n.3388C>A c.2765C>A (p.Thr922Lys) c.3200C>A (p.Thr1067Lys) c.2003C>A (p.Thr668Lys) c.899C>A (p.Thr300Lys) | |
| 21 | g.46367093C>G | CA410570534 | PCNT | c.*1615C>G (n.*1615C>G) n.3205C>G c.3119C>G (p.Thr1040Arg) c.*2362C>G (n.*2362C>G) n.3388C>G c.2765C>G (p.Thr922Arg) c.3200C>G (p.Thr1067Arg) c.2003C>G (p.Thr668Arg) c.899C>G (p.Thr300Arg) | |
| 21 | g.46367093C>T | CA410570532 | PCNT | c.*1615C>T (n.*1615C>T) n.3205C>T c.3119C>T (p.Thr1040Ile) c.*2362C>T (n.*2362C>T) n.3388C>T c.2765C>T (p.Thr922Ile) c.3200C>T (p.Thr1067Ile) c.2003C>T (p.Thr668Ile) c.899C>T (p.Thr300Ile) | |
| 21 | g.46367094A>C | CA512734527 | PCNT | c.*1616A>C (n.*1616A>C) n.3206A>C c.3120A>C (p.Thr1040=) c.*2363A>C (n.*2363A>C) n.3389A>C c.2766A>C (p.Thr922=) c.3201A>C (p.Thr1067=) c.2004A>C (p.Thr668=) c.900A>C (p.Thr300=) | |
| 21 | g.46367094A>G | CA512734528 | PCNT | c.*1616A>G (n.*1616A>G) n.3206A>G c.3120A>G (p.Thr1040=) c.*2363A>G (n.*2363A>G) n.3389A>G c.2766A>G (p.Thr922=) c.3201A>G (p.Thr1067=) c.2004A>G (p.Thr668=) c.900A>G (p.Thr300=) | |
| 21 | g.46367094A>T | CA512734529 | PCNT | c.*1616A>T (n.*1616A>T) n.3206A>T c.3120A>T (p.Thr1040=) c.*2363A>T (n.*2363A>T) n.3389A>T c.2766A>T (p.Thr922=) c.3201A>T (p.Thr1067=) c.2004A>T (p.Thr668=) c.900A>T (p.Thr300=) | |
| 21 | g.46367095G>A | CA410570536 | PCNT | c.*1617G>A (n.*1617G>A) n.3207G>A c.3121G>A (p.Glu1041Lys) c.*2364G>A (n.*2364G>A) n.3390G>A c.2767G>A (p.Glu923Lys) c.3202G>A (p.Glu1068Lys) c.2005G>A (p.Glu669Lys) c.901G>A (p.Glu301Lys) | |
| 21 | g.46367095G>C | CA410570538 | PCNT | c.*1617G>C (n.*1617G>C) n.3207G>C c.3121G>C (p.Glu1041Gln) c.*2364G>C (n.*2364G>C) n.3390G>C c.2767G>C (p.Glu923Gln) c.3202G>C (p.Glu1068Gln) c.2005G>C (p.Glu669Gln) c.901G>C (p.Glu301Gln) | gnomAD v4 |
| 21 | g.46367095G>T | CA410570540 | PCNT | c.*1617G>T (n.*1617G>T) n.3207G>T c.3121G>T (p.Glu1041Ter) c.*2364G>T (n.*2364G>T) n.3390G>T c.2767G>T (p.Glu923Ter) c.3202G>T (p.Glu1068Ter) c.2005G>T (p.Glu669Ter) c.901G>T (p.Glu301Ter) | |
| 21 | g.46367096A>C | CA410570542 | PCNT | c.*1618A>C (n.*1618A>C) n.3208A>C c.3122A>C (p.Glu1041Ala) c.*2365A>C (n.*2365A>C) n.3391A>C c.2768A>C (p.Glu923Ala) c.3203A>C (p.Glu1068Ala) c.2006A>C (p.Glu669Ala) c.902A>C (p.Glu301Ala) | |
| 21 | g.46367096A>G | CA410570544 | PCNT | c.*1618A>G (n.*1618A>G) n.3208A>G c.3122A>G (p.Glu1041Gly) c.*2365A>G (n.*2365A>G) n.3391A>G c.2768A>G (p.Glu923Gly) c.3203A>G (p.Glu1068Gly) c.2006A>G (p.Glu669Gly) c.902A>G (p.Glu301Gly) | |
| 21 | g.46367096A>T | CA410570546 | PCNT | c.*1618A>T (n.*1618A>T) n.3208A>T c.3122A>T (p.Glu1041Val) c.*2365A>T (n.*2365A>T) n.3391A>T c.2768A>T (p.Glu923Val) c.3203A>T (p.Glu1068Val) c.2006A>T (p.Glu669Val) c.902A>T (p.Glu301Val) |