Revel Score:
ENST00000427191
0.250
ENST00000436978
0.250
ENST00000316707
0.250
ENST00000411767 (MANE Select)
0.250
ENST00000511467
0.250
ENST00000357349
0.250
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0008027 (SAS)
Genomes Max Group AF
0.00097328 (SAS)
Exomes Max Group AF
0.00075304 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.86809827C>A , CM000666.2:g.86809827C>A | GRCh38 |
| NC_000004.11:g.87730980C>A , CM000666.1:g.87730980C>A | GRCh37 |
| NC_000004.10:g.87950004C>A | NCBI36 |
| NG_029704.1:g.220513C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411767.7:c.7142C>A (PTPN13) MANE Select | ENSP00000407249.2:p.Thr2381Lys | |
| ENST00000316707.10:c.6569C>A (PTPN13) | ENSP00000322675.6:p.Thr2190Lys | |
| ENST00000411767.6:c.7142C>A (PTPN13) | ENSP00000407249.2:p.Thr2381Lys | |
| ENST00000427191.6:c.7085C>A (PTPN13) | ENSP00000408368.2:p.Thr2362Lys | |
| ENST00000436978.5:c.7157C>A (PTPN13) | ENSP00000394794.1:p.Thr2386Lys | |
| ENST00000511467.1:c.7157C>A (PTPN13) | ENSP00000426626.1:p.Thr2386Lys | |
| NM_006264.2:c.7085C>A (PTPN13) | NP_006255.1:p.Thr2362Lys | |
| NM_080683.2:c.7142C>A (PTPN13) | NP_542414.1:p.Thr2381Lys | |
| NM_080684.2:c.6569C>A (PTPN13) | NP_542415.1:p.Thr2190Lys | |
| NM_080685.2:c.7157C>A (PTPN13) | NP_542416.1:p.Thr2386Lys | |
| XM_005263167.1:c.7160C>A (PTPN13) | XP_005263224.1:p.Thr2387Lys | |
| XM_011531923.1:c.1038+13957G>T (SLC10A6) | XP_011530225.1:n.1038+13957G>T | |
| XM_011532163.1:c.7226C>A (PTPN13) | XP_011530465.1:p.Thr2409Lys | |
| XM_011532164.1:c.7211C>A (PTPN13) | XP_011530466.1:p.Thr2404Lys | |
| XM_011532165.1:c.7208C>A (PTPN13) | XP_011530467.1:p.Thr2403Lys | |
| XM_011532166.1:c.7175C>A (PTPN13) | XP_011530468.1:p.Thr2392Lys | |
| XM_011532167.1:c.7169C>A (PTPN13) | XP_011530469.1:p.Thr2390Lys | |
| XM_011532168.1:c.7127C>A (PTPN13) | XP_011530470.1:p.Thr2376Lys | |
| XM_011532169.1:c.7103C>A (PTPN13) | XP_011530471.1:p.Thr2368Lys | |
| XM_011532170.1:c.6665C>A (PTPN13) | XP_011530472.1:p.Thr2222Lys | |
| XM_011532171.1:c.6653C>A (PTPN13) | XP_011530473.1:p.Thr2218Lys | |
| XM_011532172.1:c.6587C>A (PTPN13) | XP_011530474.1:p.Thr2196Lys | |
| XM_011532165.2:c.7208C>A (PTPN13) | XP_011530467.1:p.Thr2403Lys | |
| XM_017008511.2:c.7193C>A (PTPN13) | XP_016864000.1:p.Thr2398Lys | |
| XM_017008512.2:c.7151C>A (PTPN13) | XP_016864001.1:p.Thr2384Lys | |
| XM_017008513.2:c.7136C>A (PTPN13) | XP_016864002.1:p.Thr2379Lys | |
| XM_017008514.2:c.7100C>A (PTPN13) | XP_016864003.1:p.Thr2367Lys | |
| XM_017008515.2:c.6647C>A (PTPN13) | XP_016864004.1:p.Thr2216Lys | |
| XM_017008516.2:c.6635C>A (PTPN13) | XP_016864005.1:p.Thr2212Lys | |
| NM_080683.3:c.7142C>A (PTPN13) MANE Select | NP_542414.1:p.Thr2381Lys | |
| NM_006264.3:c.7085C>A (PTPN13) | NP_006255.1:p.Thr2362Lys | |
| NM_080684.3:c.6569C>A (PTPN13) | NP_542415.1:p.Thr2190Lys | |
| NM_080685.3:c.7157C>A (PTPN13) | NP_542416.1:p.Thr2386Lys |