Linked Data
dbSNP Id:
rs11122330
gnomAD v2:
1-231898591-A-G
gnomAD v3:
1-231762845-A-G
gnomAD v4:
1-231762845-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231762845A>G , CM000663.2:g.231762845A>G | GRCh38 |
| NC_000001.10:g.231898591A>G , CM000663.1:g.231898591A>G | GRCh37 |
| NC_000001.9:g.229965214A>G | NCBI36 |
| NG_011681.1:g.141031A>G | |
| NG_011681.2:g.141031A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366637.8:c.1269-4295A>G (DISC1) | ENSP00000355597.6:n.1269-4295A>G | |
| ENST00000439617.8:c.1269-4295A>G (DISC1) MANE Select | ENSP00000403888.4:n.1269-4295A>G | |
| ENST00000644515.1:c.*1415-4295A>G (TSNAX-DISC1) | ENSP00000496433.1:n.*1415-4295A>G | |
| ENST00000646525.1:c.*1415-4295A>G (TSNAX-DISC1) | ENSP00000494923.1:n.*1415-4295A>G | |
| ENST00000295051.11:c.1269-4295A>G (DISC1) | ENSP00000295051.7:n.1269-4295A>G | |
| ENST00000366632.6:c.1118-4295A>G (DISC1) | ENSP00000355592.2:n.1118-4295A>G | |
| ENST00000366633.7:c.1269-4295A>G (DISC1) | ENSP00000355593.3:n.1269-4295A>G | |
| ENST00000366636.8:c.1269-4295A>G (DISC1) | ENSP00000355596.4:n.1269-4295A>G | |
| ENST00000366637.7:c.1269-4295A>G (DISC1) | ENSP00000355597.5:n.1269-4295A>G | |
| ENST00000422590.6:c.*1130-4295A>G (DISC1) | ENSP00000415147.2:n.*1130-4295A>G | |
| ENST00000439617.6:c.1269-4295A>G (DISC1) | ENSP00000403888.2:n.1269-4295A>G | |
| ENST00000535944.5:c.1269-4295A>G (DISC1) | ENSP00000441193.1:n.1269-4295A>G | |
| ENST00000535983.5:c.1269-4295A>G (DISC1) | ENSP00000443996.1:n.1269-4295A>G | |
| ENST00000537876.5:c.1269-4295A>G (DISC1) | ENSP00000440909.2:n.1269-4295A>G | |
| ENST00000539444.5:c.1269-4295A>G (DISC1) | ENSP00000440953.1:n.1269-4295A>G | |
| ENST00000602281.5:c.1269-4295A>G (DISC1) | ENSP00000473425.1:n.1269-4295A>G | |
| ENST00000602567.1:c.*1399-4295A>G (TSNAX-DISC1) | ENSP00000473456.1:n.*1399-4295A>G | |
| ENST00000602634.5:c.*1415-4295A>G (TSNAX-DISC1) | ENSP00000473307.1:n.*1415-4295A>G | |
| ENST00000602700.5:c.*128-4295A>G (DISC1) | ENSP00000473417.1:n.*128-4295A>G | |
| ENST00000602713.5:c.*128-4295A>G (DISC1) | ENSP00000473261.1:n.*128-4295A>G | |
| ENST00000602822.5:c.*128-4295A>G (DISC1) | ENSP00000473586.1:n.*128-4295A>G | |
| ENST00000602873.5:c.219-4295A>G (DISC1) | ENSP00000473386.1:n.219-4295A>G | |
| ENST00000602885.5:c.*1328-4295A>G (TSNAX-DISC1) | ENSP00000473476.1:n.*1328-4295A>G | |
| ENST00000602956.5:c.*1130-4295A>G (TSNAX-DISC1) | ENSP00000473532.1:n.*1130-4295A>G | |
| ENST00000602962.5:c.*1399-4295A>G (TSNAX-DISC1) | ENSP00000473367.1:n.*1399-4295A>G | |
| ENST00000620189.3:c.1268+12769A>G (DISC1) | ENSP00000482174.1:n.1268+12769A>G | |
| ENST00000622252.4:c.1269-7990A>G (DISC1) | ENSP00000481791.1:n.1269-7990A>G | |
| ENST00000628350.2:c.1269-4295A>G (DISC1) | ENSP00000487190.1:n.1269-4295A>G | |
| NM_001012957.1:c.1269-4295A>G (DISC1) | NP_001012975.1:n.1269-4295A>G | |
| NM_001012959.1:c.1269-4295A>G (DISC1) | NP_001012977.1:n.1269-4295A>G | |
| NM_001164537.1:c.1365-4295A>G (DISC1) | NP_001158009.1:n.1365-4295A>G | |
| NM_001164538.1:c.1269-4295A>G (DISC1) | NP_001158010.1:n.1269-4295A>G | |
| NM_001164539.1:c.1269-4295A>G (DISC1) | NP_001158011.1:n.1269-4295A>G | |
| NM_001164540.1:c.1268+12769A>G (DISC1) | NP_001158012.1:n.1268+12769A>G | |
| NM_001164541.1:c.1269-4295A>G (DISC1) | NP_001158013.1:n.1269-4295A>G | |
| NM_001164542.1:c.1269-4295A>G (DISC1) | NP_001158014.1:n.1269-4295A>G | |
| NM_001164544.1:c.1269-4295A>G (DISC1) | NP_001158016.1:n.1269-4295A>G | |
| NM_001164545.1:c.1269-4295A>G (DISC1) | NP_001158017.1:n.1269-4295A>G | |
| NM_001164546.1:c.1269-4295A>G (DISC1) | NP_001158018.1:n.1269-4295A>G | |
| NM_001164547.1:c.1269-4295A>G (DISC1) | NP_001158019.1:n.1269-4295A>G | |
| NM_001164548.1:c.1269-4295A>G (DISC1) | NP_001158020.1:n.1269-4295A>G | |
| NM_001164549.1:c.1269-4295A>G (DISC1) | NP_001158021.1:n.1269-4295A>G | |
| NM_001164556.1:c.219-4295A>G (DISC1) | NP_001158028.1:n.219-4295A>G | |
| NM_018662.2:c.1269-4295A>G (DISC1) | NP_061132.2:n.1269-4295A>G | |
| NR_028393.1:n.1990-4295A>G (TSNAX-DISC1) | ||
| NR_028394.1:n.2118-4295A>G (TSNAX-DISC1) | ||
| NR_028395.1:n.2118-4295A>G (TSNAX-DISC1) | ||
| NR_028396.1:n.1990-4295A>G (TSNAX-DISC1) | ||
| NR_028397.1:n.1855-4295A>G (TSNAX-DISC1) | ||
| NR_028398.1:n.1609-4295A>G (TSNAX-DISC1) | ||
| NM_001012957.2:c.1269-4295A>G (DISC1) | NP_001012975.1:n.1269-4295A>G | |
| NM_001012959.2:c.1269-4295A>G (DISC1) | NP_001012977.1:n.1269-4295A>G | |
| NM_001164537.2:c.1365-4295A>G (DISC1) | NP_001158009.1:n.1365-4295A>G | |
| NM_001164538.2:c.1269-4295A>G (DISC1) | NP_001158010.1:n.1269-4295A>G | |
| NM_001164539.2:c.1269-4295A>G (DISC1) | NP_001158011.1:n.1269-4295A>G | |
| NM_001164540.2:c.1268+12769A>G (DISC1) | NP_001158012.1:n.1268+12769A>G | |
| NM_001164541.2:c.1269-4295A>G (DISC1) | NP_001158013.1:n.1269-4295A>G | |
| NM_001164542.2:c.1269-4295A>G (DISC1) | NP_001158014.1:n.1269-4295A>G | |
| NM_001164546.2:c.1269-4295A>G (DISC1) | NP_001158018.1:n.1269-4295A>G | |
| NM_001164547.2:c.1269-4295A>G (DISC1) | NP_001158019.1:n.1269-4295A>G | |
| NM_001164549.2:c.1269-4295A>G (DISC1) | NP_001158021.1:n.1269-4295A>G | |
| NM_018662.3:c.1269-4295A>G (DISC1) MANE Select | NP_061132.2:n.1269-4295A>G | |
| NM_001164544.2:c.1269-4295A>G (DISC1) | NP_001158016.1:n.1269-4295A>G | |
| NM_001164545.2:c.1269-4295A>G (DISC1) | NP_001158017.1:n.1269-4295A>G | |
| NM_001164548.2:c.1269-4295A>G (DISC1) | NP_001158020.1:n.1269-4295A>G | |
| NM_001164556.2:c.219-4295A>G (DISC1) | NP_001158028.1:n.219-4295A>G |