COSMIC:
COSM3750992 (not active)
Revel Score:
ENST00000535983
0.084
ENST00000422590
0.084
ENST00000439617 (MANE Select)
0.071
ENST00000366637
0.071
ENST00000366638
0.071
ENST00000532576
0.071
ENST00000427560
0.071
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33276477 (AFR)
Genomes Max Group AF
0.32718821 (AFR)
Exomes Max Group AF
0.33646878 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232008852A>T , CM000663.2:g.232008852A>T | GRCh38 |
| NC_000001.10:g.232144598A>T , CM000663.1:g.232144598A>T | GRCh37 |
| NC_000001.9:g.230211221A>T | NCBI36 |
| NG_011681.1:g.387038A>T | |
| NG_011681.2:g.387038A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366637.8:c.2110A>T (DISC1) | ENSP00000355597.6:p.Ser704Cys | |
| ENST00000439617.8:c.2110A>T (DISC1) MANE Select | ENSP00000403888.4:p.Ser704Cys | |
| ENST00000366637.7:c.2110A>T (DISC1) | ENSP00000355597.5:p.Ser704Cys | |
| ENST00000422590.6:c.*1971A>T (DISC1) | ENSP00000415147.2:n.*1971A>T | |
| ENST00000427560.1:n.375A>T (DISC1) | ||
| ENST00000439617.6:c.2110A>T (DISC1) | ENSP00000403888.2:p.Ser704Cys | |
| ENST00000535983.5:c.2049A>T (DISC1) | ENSP00000443996.1:p.Arg683Ser | |
| ENST00000620189.3:c.1744A>T (DISC1) | ENSP00000482174.1:p.Ser582Cys | |
| ENST00000622252.4:c.*651A>T (DISC1) | ENSP00000481791.1:n.*651A>T | |
| NM_001012957.1:c.2110A>T (DISC1) | NP_001012975.1:p.Ser704Cys | |
| NM_001164537.1:c.2206A>T (DISC1) | NP_001158009.1:p.Ser736Cys | |
| NM_001164538.1:c.2110A>T (DISC1) | NP_001158010.1:p.Ser704Cys | |
| NM_001164540.1:c.1744A>T (DISC1) | NP_001158012.1:p.Ser582Cys | |
| NM_001164541.1:c.2049A>T (DISC1) | NP_001158013.1:p.Arg683Ser | |
| NM_001164547.1:c.*83A>T (DISC1) | NP_001158019.1:n.*83A>T | |
| NM_018662.2:c.2110A>T (DISC1) | NP_061132.2:p.Ser704Cys | |
| NR_028393.1:n.2776A>T (TSNAX-DISC1) | ||
| NM_001012957.2:c.2110A>T (DISC1) | NP_001012975.1:p.Ser704Cys | |
| NM_001164537.2:c.2206A>T (DISC1) | NP_001158009.1:p.Ser736Cys | |
| NM_001164538.2:c.2110A>T (DISC1) | NP_001158010.1:p.Ser704Cys | |
| NM_001164540.2:c.1744A>T (DISC1) | NP_001158012.1:p.Ser582Cys | |
| NM_001164541.2:c.2049A>T (DISC1) | NP_001158013.1:p.Arg683Ser | |
| NM_001164547.2:c.*83A>T (DISC1) | NP_001158019.1:n.*83A>T | |
| NM_018662.3:c.2110A>T (DISC1) MANE Select | NP_061132.2:p.Ser704Cys |