Revel Score:
ENST00000354258 (MANE Select)
0.355
ENST00000425148
0.355
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32847198T>G , CM000668.2:g.32847198T>G | GRCh38 |
| NC_000006.11:g.32814975T>G , CM000668.1:g.32814975T>G | GRCh37 |
| NC_000006.10:g.32922953T>G | NCBI36 |
| NG_011759.1:g.11774A>C | |
| NG_028165.1:g.2738A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698420.1:c.*1062A>C (TAP1) | ENSP00000513708.1:n.*1062A>C | |
| ENST00000698421.1:c.*804A>C (TAP1) | ENSP00000513709.1:n.*804A>C | |
| ENST00000698422.1:c.1721A>C (TAP1) | ENSP00000513710.1:p.Asp574Ala | |
| ENST00000698423.1:c.1910A>C (TAP1) | ENSP00000513711.1:p.Asp637Ala | |
| ENST00000698424.1:c.1781A>C (TAP1) | ENSP00000513712.1:p.Asp594Ala | |
| ENST00000354258.5:c.1910A>C (TAP1) MANE Select | ENSP00000346206.5:p.Asp637Ala | |
| ENST00000643049.2:c.455A>C (TAP1) | ENSP00000494148.2:p.Asp152Ala | |
| ENST00000643923.1:n.1346A>C (TAP1) | ||
| ENST00000645078.1:n.1505A>C (TAP1) | ||
| ENST00000354258.4:c.2090A>C (TAP1) | ENSP00000346206.4:p.Asp697Ala | |
| ENST00000395330.5:c.-10+2924T>G (PSMB9) | ENSP00000378739.1:n.-10+2924T>G | |
| ENST00000414474.5:c.-10+2328T>G (PSMB9) | ENSP00000394363.1:n.-10+2328T>G | |
| ENST00000486332.1:n.1835A>C (TAP1) | ||
| ENST00000487296.1:n.790A>C (TAP1) | ||
| NM_000593.5:c.2090A>C (TAP1) | NP_000584.2:p.Asp697Ala | |
| NM_001292022.1:c.1307A>C (TAP1) | NP_001278951.1:p.Asp436Ala | |
| NM_001292022.2:c.1307A>C (TAP1) | NP_001278951.1:p.Asp436Ala | |
| NM_000593.6:c.1910A>C (TAP1) MANE Select | NP_000584.3:p.Asp637Ala |