Revel Score:
ENST00000427191
0.185
ENST00000436978
0.185
ENST00000316707
0.185
ENST00000411767 (MANE Select)
0.185
ENST00000511467
0.185
ENST00000357349
0.185
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01578757 (NFE)
Genomes Max Group AF
0.01455681 (NFE)
Exomes Max Group AF
0.01582148 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.86809827C>T , CM000666.2:g.86809827C>T | GRCh38 |
| NC_000004.11:g.87730980C>T , CM000666.1:g.87730980C>T | GRCh37 |
| NC_000004.10:g.87950004C>T | NCBI36 |
| NG_029704.1:g.220513C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411767.7:c.7142C>T (PTPN13) MANE Select | ENSP00000407249.2:p.Thr2381Ile | |
| ENST00000316707.10:c.6569C>T (PTPN13) | ENSP00000322675.6:p.Thr2190Ile | |
| ENST00000411767.6:c.7142C>T (PTPN13) | ENSP00000407249.2:p.Thr2381Ile | |
| ENST00000427191.6:c.7085C>T (PTPN13) | ENSP00000408368.2:p.Thr2362Ile | |
| ENST00000436978.5:c.7157C>T (PTPN13) | ENSP00000394794.1:p.Thr2386Ile | |
| ENST00000511467.1:c.7157C>T (PTPN13) | ENSP00000426626.1:p.Thr2386Ile | |
| NM_006264.2:c.7085C>T (PTPN13) | NP_006255.1:p.Thr2362Ile | |
| NM_080683.2:c.7142C>T (PTPN13) | NP_542414.1:p.Thr2381Ile | |
| NM_080684.2:c.6569C>T (PTPN13) | NP_542415.1:p.Thr2190Ile | |
| NM_080685.2:c.7157C>T (PTPN13) | NP_542416.1:p.Thr2386Ile | |
| XM_005263167.1:c.7160C>T (PTPN13) | XP_005263224.1:p.Thr2387Ile | |
| XM_011531923.1:c.1038+13957G>A (SLC10A6) | XP_011530225.1:n.1038+13957G>A | |
| XM_011532163.1:c.7226C>T (PTPN13) | XP_011530465.1:p.Thr2409Ile | |
| XM_011532164.1:c.7211C>T (PTPN13) | XP_011530466.1:p.Thr2404Ile | |
| XM_011532165.1:c.7208C>T (PTPN13) | XP_011530467.1:p.Thr2403Ile | |
| XM_011532166.1:c.7175C>T (PTPN13) | XP_011530468.1:p.Thr2392Ile | |
| XM_011532167.1:c.7169C>T (PTPN13) | XP_011530469.1:p.Thr2390Ile | |
| XM_011532168.1:c.7127C>T (PTPN13) | XP_011530470.1:p.Thr2376Ile | |
| XM_011532169.1:c.7103C>T (PTPN13) | XP_011530471.1:p.Thr2368Ile | |
| XM_011532170.1:c.6665C>T (PTPN13) | XP_011530472.1:p.Thr2222Ile | |
| XM_011532171.1:c.6653C>T (PTPN13) | XP_011530473.1:p.Thr2218Ile | |
| XM_011532172.1:c.6587C>T (PTPN13) | XP_011530474.1:p.Thr2196Ile | |
| XM_011532165.2:c.7208C>T (PTPN13) | XP_011530467.1:p.Thr2403Ile | |
| XM_017008511.2:c.7193C>T (PTPN13) | XP_016864000.1:p.Thr2398Ile | |
| XM_017008512.2:c.7151C>T (PTPN13) | XP_016864001.1:p.Thr2384Ile | |
| XM_017008513.2:c.7136C>T (PTPN13) | XP_016864002.1:p.Thr2379Ile | |
| XM_017008514.2:c.7100C>T (PTPN13) | XP_016864003.1:p.Thr2367Ile | |
| XM_017008515.2:c.6647C>T (PTPN13) | XP_016864004.1:p.Thr2216Ile | |
| XM_017008516.2:c.6635C>T (PTPN13) | XP_016864005.1:p.Thr2212Ile | |
| NM_080683.3:c.7142C>T (PTPN13) MANE Select | NP_542414.1:p.Thr2381Ile | |
| NM_006264.3:c.7085C>T (PTPN13) | NP_006255.1:p.Thr2362Ile | |
| NM_080684.3:c.6569C>T (PTPN13) | NP_542415.1:p.Thr2190Ile | |
| NM_080685.3:c.7157C>T (PTPN13) | NP_542416.1:p.Thr2386Ile |