COSMIC:
COSM4143509 (not active)
COSM4143510 (not active)
COSM4143511 (not active)
COSM4143512 (not active)
Revel Score:
ENST00000439617 (MANE Select)
0.165
ENST00000366637
0.165
ENST00000366636
0.165
ENST00000366638
0.165
ENST00000532576
0.165
ENST00000535983
0.165
ENST00000366633
0.165
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17788959 (AFR)
Genomes Max Group AF
0.17664556 (AFR)
Exomes Max Group AF
0.17709252 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231818355C>T , CM000663.2:g.231818355C>T | GRCh38 |
| NC_000001.10:g.231954101C>T , CM000663.1:g.231954101C>T | GRCh37 |
| NC_000001.9:g.230020724C>T | NCBI36 |
| NG_011681.1:g.196541C>T | |
| NG_011681.2:g.196541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366637.8:c.1819C>T (DISC1) | ENSP00000355597.6:p.Leu607Phe | |
| ENST00000439617.8:c.1819C>T (DISC1) MANE Select | ENSP00000403888.4:p.Leu607Phe | |
| ENST00000644515.1:c.*1965C>T (TSNAX-DISC1) | ENSP00000496433.1:n.*1965C>T | |
| ENST00000646525.1:c.*1910C>T (TSNAX-DISC1) | ENSP00000494923.1:n.*1910C>T | |
| ENST00000295051.11:c.*120C>T (DISC1) | ENSP00000295051.7:n.*120C>T | |
| ENST00000366632.6:c.*519C>T (DISC1) | ENSP00000355592.2:n.*519C>T | |
| ENST00000366633.7:c.1819C>T (DISC1) | ENSP00000355593.3:p.Leu607Phe | |
| ENST00000366636.8:c.1819C>T (DISC1) | ENSP00000355596.4:p.Leu607Phe | |
| ENST00000366637.7:c.1819C>T (DISC1) | ENSP00000355597.5:p.Leu607Phe | |
| ENST00000422590.6:c.*1680C>T (DISC1) | ENSP00000415147.2:n.*1680C>T | |
| ENST00000439617.6:c.1819C>T (DISC1) | ENSP00000403888.2:p.Leu607Phe | |
| ENST00000535944.5:c.*168C>T (DISC1) | ENSP00000441193.1:n.*168C>T | |
| ENST00000535983.5:c.1819C>T (DISC1) | ENSP00000443996.1:p.Leu607Phe | |
| ENST00000537876.5:c.*102C>T (DISC1) | ENSP00000440909.2:n.*102C>T | |
| ENST00000539444.5:c.1716C>T (DISC1) | ENSP00000440953.1:p.Thr572= | |
| ENST00000602281.5:c.1819C>T (DISC1) | ENSP00000473425.1:p.Leu607Phe | |
| ENST00000602567.1:c.*1846C>T (TSNAX-DISC1) | ENSP00000473456.1:n.*1846C>T | |
| ENST00000602634.5:c.*1965C>T (TSNAX-DISC1) | ENSP00000473307.1:n.*1965C>T | |
| ENST00000602700.5:c.*520C>T (DISC1) | ENSP00000473417.1:n.*520C>T | |
| ENST00000602713.5:c.*678C>T (DISC1) | ENSP00000473261.1:n.*678C>T | |
| ENST00000602822.5:c.*678C>T (DISC1) | ENSP00000473586.1:n.*678C>T | |
| ENST00000602873.5:c.*5C>T (DISC1) | ENSP00000473386.1:n.*5C>T | |
| ENST00000602885.5:c.*1878C>T (TSNAX-DISC1) | ENSP00000473476.1:n.*1878C>T | |
| ENST00000602956.5:c.*1680C>T (TSNAX-DISC1) | ENSP00000473532.1:n.*1680C>T | |
| ENST00000602962.5:c.*1949C>T (TSNAX-DISC1) | ENSP00000473367.1:n.*1949C>T | |
| ENST00000620189.3:c.1453C>T (DISC1) | ENSP00000482174.1:p.Leu485Phe | |
| ENST00000622252.4:c.*360C>T (DISC1) | ENSP00000481791.1:n.*360C>T | |
| ENST00000628350.2:c.1634+47285C>T (DISC1) | ENSP00000487190.1:n.1634+47285C>T | |
| NM_001012957.1:c.1819C>T (DISC1) | NP_001012975.1:p.Leu607Phe | |
| NM_001012959.1:c.1819C>T (DISC1) | NP_001012977.1:p.Leu607Phe | |
| NM_001164537.1:c.1915C>T (DISC1) | NP_001158009.1:p.Leu639Phe | |
| NM_001164538.1:c.1819C>T (DISC1) | NP_001158010.1:p.Leu607Phe | |
| NM_001164539.1:c.1819C>T (DISC1) | NP_001158011.1:p.Leu607Phe | |
| NM_001164540.1:c.1453C>T (DISC1) | NP_001158012.1:p.Leu485Phe | |
| NM_001164541.1:c.1819C>T (DISC1) | NP_001158013.1:p.Leu607Phe | |
| NM_001164542.1:c.1819C>T (DISC1) | NP_001158014.1:p.Leu607Phe | |
| NM_001164544.1:c.1819C>T (DISC1) | NP_001158016.1:p.Leu607Phe | |
| NM_001164545.1:c.1716C>T (DISC1) | NP_001158017.1:p.Thr572= | |
| NM_001164546.1:c.1634+47285C>T (DISC1) | NP_001158018.1:n.1634+47285C>T | |
| NM_001164547.1:c.1634+47285C>T (DISC1) | NP_001158019.1:n.1634+47285C>T | |
| NM_001164548.1:c.*5C>T (DISC1) | NP_001158020.1:n.*5C>T | |
| NM_001164556.1:c.*5C>T (DISC1) | NP_001158028.1:n.*5C>T | |
| NM_018662.2:c.1819C>T (DISC1) | NP_061132.2:p.Leu607Phe | |
| NR_002227.2:n.163G>A (DISC2) | ||
| NR_028393.1:n.2485C>T (TSNAX-DISC1) | ||
| NR_028394.1:n.2668C>T (TSNAX-DISC1) | ||
| NR_028395.1:n.2565C>T (TSNAX-DISC1) | ||
| NR_028396.1:n.2540C>T (TSNAX-DISC1) | ||
| NR_028397.1:n.2405C>T (TSNAX-DISC1) | ||
| NR_028398.1:n.2159C>T (TSNAX-DISC1) | ||
| XR_949268.1:n.1380-4064G>A | ||
| XR_949269.1:n.1057-4064G>A | ||
| XR_949270.1:n.43-4064G>A | ||
| XR_001738521.2:n.84+3875G>A | ||
| XR_949268.3:n.325-4064G>A | ||
| XR_949269.2:n.215-4064G>A | ||
| XR_949270.2:n.41-4064G>A | ||
| NM_001012957.2:c.1819C>T (DISC1) | NP_001012975.1:p.Leu607Phe | |
| NM_001012959.2:c.1819C>T (DISC1) | NP_001012977.1:p.Leu607Phe | |
| NM_001164537.2:c.1915C>T (DISC1) | NP_001158009.1:p.Leu639Phe | |
| NM_001164538.2:c.1819C>T (DISC1) | NP_001158010.1:p.Leu607Phe | |
| NM_001164539.2:c.1819C>T (DISC1) | NP_001158011.1:p.Leu607Phe | |
| NM_001164540.2:c.1453C>T (DISC1) | NP_001158012.1:p.Leu485Phe | |
| NM_001164541.2:c.1819C>T (DISC1) | NP_001158013.1:p.Leu607Phe | |
| NM_001164542.2:c.1819C>T (DISC1) | NP_001158014.1:p.Leu607Phe | |
| NM_001164546.2:c.1634+47285C>T (DISC1) | NP_001158018.1:n.1634+47285C>T | |
| NM_001164547.2:c.1634+47285C>T (DISC1) | NP_001158019.1:n.1634+47285C>T | |
| NM_018662.3:c.1819C>T (DISC1) MANE Select | NP_061132.2:p.Leu607Phe | |
| NM_001164544.2:c.1819C>T (DISC1) | NP_001158016.1:p.Leu607Phe | |
| NM_001164545.2:c.1716C>T (DISC1) | NP_001158017.1:p.Thr572= | |
| NM_001164548.2:c.*5C>T (DISC1) | NP_001158020.1:n.*5C>T | |
| NM_001164556.2:c.*5C>T (DISC1) | NP_001158028.1:n.*5C>T |