Revel Score:
ENST00000534368
0.080
ENST00000304877
0.080
ENST00000534000 (MANE Select)
0.080
ENST00000368402
0.080
ENST00000368388
0.080
ENST00000527711
0.080
ENST00000528193
0.080
ENST00000532429
0.080
ENST00000534199
0.080
ENST00000392482
0.080
ENST00000524679
0.080
ENST00000392484
0.080
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001144 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.125220147T>C , CM000668.2:g.125220147T>C | GRCh38 |
| NC_000006.11:g.125541293T>C , CM000668.1:g.125541293T>C | GRCh37 |
| NC_000006.10:g.125582992T>C | NCBI36 |
| NG_029911.1:g.71415T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534000.6:c.89T>C (TPD52L1) MANE Select | ENSP00000434142.1:p.Met30Thr | |
| ENST00000304877.17:c.89T>C (TPD52L1) | ENSP00000306285.13:p.Met30Thr | |
| ENST00000368388.6:c.89T>C (TPD52L1) | ENSP00000357373.2:p.Met30Thr | |
| ENST00000368402.9:c.89T>C (TPD52L1) | ENSP00000357387.5:p.Met30Thr | |
| ENST00000392482.6:c.2T>C (TPD52L1) | ENSP00000376273.2:p.Met1Thr | |
| ENST00000392483.6:n.192T>C (TPD52L1) | ||
| ENST00000524679.1:c.2T>C (TPD52L1) | ENSP00000432787.1:p.Met1Thr | |
| ENST00000527711.5:c.89T>C (TPD52L1) | ENSP00000436953.1:p.Met30Thr | |
| ENST00000528193.5:c.89T>C (TPD52L1) | ENSP00000434743.1:p.Met30Thr | |
| ENST00000532429.5:c.2T>C (TPD52L1) | ENSP00000435447.1:p.Met1Thr | |
| ENST00000532978.5:n.414T>C (TPD52L1) | ||
| ENST00000534000.5:c.89T>C (TPD52L1) | ENSP00000434142.1:p.Met30Thr | |
| ENST00000534199.5:c.2T>C (TPD52L1) | ENSP00000432590.1:p.Met1Thr | |
| ENST00000534368.5:c.2T>C (TPD52L1) | ENSP00000432806.1:p.Met1Thr | |
| ENST00000608456.5:n.439A>G (HDDC2) | ||
| NM_001003395.1:c.2T>C (TPD52L1) | NP_001003395.1:p.Met1Thr | |
| NM_001003396.1:c.89T>C (TPD52L1) | NP_001003396.1:p.Met30Thr | |
| NM_001003397.1:c.89T>C (TPD52L1) | NP_001003397.1:p.Met30Thr | |
| NM_001292026.1:c.2T>C (TPD52L1) | NP_001278955.1:p.Met1Thr | |
| NM_001300994.1:c.89T>C (TPD52L1) | NP_001287923.1:p.Met30Thr | |
| NM_003287.2:c.89T>C (TPD52L1) | NP_003278.1:p.Met30Thr | |
| XM_005267122.1:c.2T>C (TPD52L1) | XP_005267179.1:p.Met1Thr | |
| XM_006715556.2:c.89T>C (TPD52L1) | XP_006715619.1:p.Met30Thr | |
| XM_006715557.2:c.89T>C (TPD52L1) | XP_006715620.1:p.Met30Thr | |
| XM_006715558.2:c.89T>C (TPD52L1) | XP_006715621.1:p.Met30Thr | |
| XM_011536098.1:c.2T>C (TPD52L1) | XP_011534400.1:p.Met1Thr | |
| NM_001003395.2:c.2T>C (TPD52L1) | NP_001003395.1:p.Met1Thr | |
| NM_001003396.2:c.89T>C (TPD52L1) | NP_001003396.1:p.Met30Thr | |
| NM_001003397.2:c.89T>C (TPD52L1) | NP_001003397.1:p.Met30Thr | |
| NM_001292026.2:c.2T>C (TPD52L1) | NP_001278955.1:p.Met1Thr | |
| NM_001300994.2:c.89T>C (TPD52L1) | NP_001287923.1:p.Met30Thr | |
| NM_001318903.1:c.89T>C (TPD52L1) | NP_001305832.1:p.Met30Thr | |
| NM_001318907.1:c.2T>C (TPD52L1) | NP_001305836.1:p.Met1Thr | |
| NM_003287.3:c.89T>C (TPD52L1) | NP_003278.1:p.Met30Thr | |
| XM_005267122.2:c.2T>C (TPD52L1) | XP_005267179.1:p.Met1Thr | |
| XM_006715557.4:c.89T>C (TPD52L1) | XP_006715620.1:p.Met30Thr | |
| XM_017011238.2:c.89T>C (TPD52L1) | XP_016866727.1:p.Met30Thr | |
| XM_017011239.1:c.2T>C (TPD52L1) | XP_016866728.1:p.Met1Thr | |
| XM_017011240.1:c.2T>C (TPD52L1) | XP_016866729.1:p.Met1Thr | |
| XM_024446534.1:c.89T>C (TPD52L1) | XP_024302302.1:p.Met30Thr | |
| XR_001743601.2:n.311T>C (TPD52L1) | ||
| NM_003287.4:c.89T>C (TPD52L1) MANE Select | NP_003278.1:p.Met30Thr | |
| NM_001003395.3:c.2T>C (TPD52L1) | NP_001003395.1:p.Met1Thr | |
| NM_001003396.3:c.89T>C (TPD52L1) | NP_001003396.1:p.Met30Thr | |
| NM_001003397.3:c.89T>C (TPD52L1) | NP_001003397.1:p.Met30Thr | |
| NM_001292026.3:c.2T>C (TPD52L1) | NP_001278955.1:p.Met1Thr | |
| NM_001300994.3:c.89T>C (TPD52L1) | NP_001287923.1:p.Met30Thr | |
| NM_001318903.2:c.89T>C (TPD52L1) | NP_001305832.1:p.Met30Thr | |
| NM_001318907.2:c.2T>C (TPD52L1) | NP_001305836.1:p.Met1Thr |