Revel Score:
ENST00000535983
0.071
ENST00000422590
0.071
ENST00000439617 (MANE Select)
0.073
ENST00000366637
0.073
ENST00000366638
0.073
ENST00000532576
0.073
ENST00000427560
0.073
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232008852A>C , CM000663.2:g.232008852A>C | GRCh38 |
| NC_000001.10:g.232144598A>C , CM000663.1:g.232144598A>C | GRCh37 |
| NC_000001.9:g.230211221A>C | NCBI36 |
| NG_011681.1:g.387038A>C | |
| NG_011681.2:g.387038A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366637.8:c.2110A>C (DISC1) | ENSP00000355597.6:p.Ser704Arg | |
| ENST00000439617.8:c.2110A>C (DISC1) MANE Select | ENSP00000403888.4:p.Ser704Arg | |
| ENST00000366637.7:c.2110A>C (DISC1) | ENSP00000355597.5:p.Ser704Arg | |
| ENST00000422590.6:c.*1971A>C (DISC1) | ENSP00000415147.2:n.*1971A>C | |
| ENST00000427560.1:n.375A>C (DISC1) | ||
| ENST00000439617.6:c.2110A>C (DISC1) | ENSP00000403888.2:p.Ser704Arg | |
| ENST00000535983.5:c.2049A>C (DISC1) | ENSP00000443996.1:p.Arg683Ser | |
| ENST00000620189.3:c.1744A>C (DISC1) | ENSP00000482174.1:p.Ser582Arg | |
| ENST00000622252.4:c.*651A>C (DISC1) | ENSP00000481791.1:n.*651A>C | |
| NM_001012957.1:c.2110A>C (DISC1) | NP_001012975.1:p.Ser704Arg | |
| NM_001164537.1:c.2206A>C (DISC1) | NP_001158009.1:p.Ser736Arg | |
| NM_001164538.1:c.2110A>C (DISC1) | NP_001158010.1:p.Ser704Arg | |
| NM_001164540.1:c.1744A>C (DISC1) | NP_001158012.1:p.Ser582Arg | |
| NM_001164541.1:c.2049A>C (DISC1) | NP_001158013.1:p.Arg683Ser | |
| NM_001164547.1:c.*83A>C (DISC1) | NP_001158019.1:n.*83A>C | |
| NM_018662.2:c.2110A>C (DISC1) | NP_061132.2:p.Ser704Arg | |
| NR_028393.1:n.2776A>C (TSNAX-DISC1) | ||
| NM_001012957.2:c.2110A>C (DISC1) | NP_001012975.1:p.Ser704Arg | |
| NM_001164537.2:c.2206A>C (DISC1) | NP_001158009.1:p.Ser736Arg | |
| NM_001164538.2:c.2110A>C (DISC1) | NP_001158010.1:p.Ser704Arg | |
| NM_001164540.2:c.1744A>C (DISC1) | NP_001158012.1:p.Ser582Arg | |
| NM_001164541.2:c.2049A>C (DISC1) | NP_001158013.1:p.Arg683Ser | |
| NM_001164547.2:c.*83A>C (DISC1) | NP_001158019.1:n.*83A>C | |
| NM_018662.3:c.2110A>C (DISC1) MANE Select | NP_061132.2:p.Ser704Arg |