Linked Data
dbSNP Id:
rs768866821
ExAC:
1:231902989 C / T
gnomAD v2:
1-231902989-C-T
gnomAD v4:
1-231767243-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231767243C>T , CM000663.2:g.231767243C>T | GRCh38 |
| NC_000001.10:g.231902989C>T , CM000663.1:g.231902989C>T | GRCh37 |
| NC_000001.9:g.229969612C>T | NCBI36 |
| NG_011681.1:g.145429C>T | |
| NG_011681.2:g.145429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366637.8:c.1372C>T (DISC1) | ENSP00000355597.6:p.Leu458Phe | |
| ENST00000439617.8:c.1372C>T (DISC1) MANE Select | ENSP00000403888.4:p.Leu458Phe | |
| ENST00000644515.1:c.*1518C>T (TSNAX-DISC1) | ENSP00000496433.1:n.*1518C>T | |
| ENST00000646525.1:c.*1518C>T (TSNAX-DISC1) | ENSP00000494923.1:n.*1518C>T | |
| ENST00000295051.11:c.1372C>T (DISC1) | ENSP00000295051.7:p.Leu458Phe | |
| ENST00000366632.6:c.*72C>T (DISC1) | ENSP00000355592.2:n.*72C>T | |
| ENST00000366633.7:c.1372C>T (DISC1) | ENSP00000355593.3:p.Leu458Phe | |
| ENST00000366636.8:c.1372C>T (DISC1) | ENSP00000355596.4:p.Leu458Phe | |
| ENST00000366637.7:c.1372C>T (DISC1) | ENSP00000355597.5:p.Leu458Phe | |
| ENST00000422590.6:c.*1233C>T (DISC1) | ENSP00000415147.2:n.*1233C>T | |
| ENST00000439617.6:c.1372C>T (DISC1) | ENSP00000403888.2:p.Leu458Phe | |
| ENST00000535944.5:c.1372C>T (DISC1) | ENSP00000441193.1:p.Leu458Phe | |
| ENST00000535983.5:c.1372C>T (DISC1) | ENSP00000443996.1:p.Leu458Phe | |
| ENST00000537876.5:c.1372C>T (DISC1) | ENSP00000440909.2:p.Leu458Phe | |
| ENST00000539444.5:c.1372C>T (DISC1) | ENSP00000440953.1:p.Leu458Phe | |
| ENST00000602281.5:c.1372C>T (DISC1) | ENSP00000473425.1:p.Leu458Phe | |
| ENST00000602567.1:c.*1502C>T (TSNAX-DISC1) | ENSP00000473456.1:n.*1502C>T | |
| ENST00000602634.5:c.*1518C>T (TSNAX-DISC1) | ENSP00000473307.1:n.*1518C>T | |
| ENST00000602700.5:c.*231C>T (DISC1) | ENSP00000473417.1:n.*231C>T | |
| ENST00000602713.5:c.*231C>T (DISC1) | ENSP00000473261.1:n.*231C>T | |
| ENST00000602822.5:c.*231C>T (DISC1) | ENSP00000473586.1:n.*231C>T | |
| ENST00000602873.5:c.322C>T (DISC1) | ENSP00000473386.1:p.Leu108Phe | |
| ENST00000602885.5:c.*1431C>T (TSNAX-DISC1) | ENSP00000473476.1:n.*1431C>T | |
| ENST00000602956.5:c.*1233C>T (TSNAX-DISC1) | ENSP00000473532.1:n.*1233C>T | |
| ENST00000602962.5:c.*1502C>T (TSNAX-DISC1) | ENSP00000473367.1:n.*1502C>T | |
| ENST00000620189.3:c.1268+17167C>T (DISC1) | ENSP00000482174.1:n.1268+17167C>T | |
| ENST00000622252.4:c.1269-3592C>T (DISC1) | ENSP00000481791.1:n.1269-3592C>T | |
| ENST00000628350.2:c.1372C>T (DISC1) | ENSP00000487190.1:p.Leu458Phe | |
| NM_001012957.1:c.1372C>T (DISC1) | NP_001012975.1:p.Leu458Phe | |
| NM_001012959.1:c.1372C>T (DISC1) | NP_001012977.1:p.Leu458Phe | |
| NM_001164537.1:c.1468C>T (DISC1) | NP_001158009.1:p.Leu490Phe | |
| NM_001164538.1:c.1372C>T (DISC1) | NP_001158010.1:p.Leu458Phe | |
| NM_001164539.1:c.1372C>T (DISC1) | NP_001158011.1:p.Leu458Phe | |
| NM_001164540.1:c.1268+17167C>T (DISC1) | NP_001158012.1:n.1268+17167C>T | |
| NM_001164541.1:c.1372C>T (DISC1) | NP_001158013.1:p.Leu458Phe | |
| NM_001164542.1:c.1372C>T (DISC1) | NP_001158014.1:p.Leu458Phe | |
| NM_001164544.1:c.1372C>T (DISC1) | NP_001158016.1:p.Leu458Phe | |
| NM_001164545.1:c.1372C>T (DISC1) | NP_001158017.1:p.Leu458Phe | |
| NM_001164546.1:c.1372C>T (DISC1) | NP_001158018.1:p.Leu458Phe | |
| NM_001164547.1:c.1372C>T (DISC1) | NP_001158019.1:p.Leu458Phe | |
| NM_001164548.1:c.1372C>T (DISC1) | NP_001158020.1:p.Leu458Phe | |
| NM_001164549.1:c.1372C>T (DISC1) | NP_001158021.1:p.Leu458Phe | |
| NM_001164556.1:c.322C>T (DISC1) | NP_001158028.1:p.Leu108Phe | |
| NM_018662.2:c.1372C>T (DISC1) | NP_061132.2:p.Leu458Phe | |
| NR_028393.1:n.2093C>T (TSNAX-DISC1) | ||
| NR_028394.1:n.2221C>T (TSNAX-DISC1) | ||
| NR_028395.1:n.2221C>T (TSNAX-DISC1) | ||
| NR_028396.1:n.2093C>T (TSNAX-DISC1) | ||
| NR_028397.1:n.1958C>T (TSNAX-DISC1) | ||
| NR_028398.1:n.1712C>T (TSNAX-DISC1) | ||
| NM_001012957.2:c.1372C>T (DISC1) | NP_001012975.1:p.Leu458Phe | |
| NM_001012959.2:c.1372C>T (DISC1) | NP_001012977.1:p.Leu458Phe | |
| NM_001164537.2:c.1468C>T (DISC1) | NP_001158009.1:p.Leu490Phe | |
| NM_001164538.2:c.1372C>T (DISC1) | NP_001158010.1:p.Leu458Phe | |
| NM_001164539.2:c.1372C>T (DISC1) | NP_001158011.1:p.Leu458Phe | |
| NM_001164540.2:c.1268+17167C>T (DISC1) | NP_001158012.1:n.1268+17167C>T | |
| NM_001164541.2:c.1372C>T (DISC1) | NP_001158013.1:p.Leu458Phe | |
| NM_001164542.2:c.1372C>T (DISC1) | NP_001158014.1:p.Leu458Phe | |
| NM_001164546.2:c.1372C>T (DISC1) | NP_001158018.1:p.Leu458Phe | |
| NM_001164547.2:c.1372C>T (DISC1) | NP_001158019.1:p.Leu458Phe | |
| NM_001164549.2:c.1372C>T (DISC1) | NP_001158021.1:p.Leu458Phe | |
| NM_018662.3:c.1372C>T (DISC1) MANE Select | NP_061132.2:p.Leu458Phe | |
| NM_001164544.2:c.1372C>T (DISC1) | NP_001158016.1:p.Leu458Phe | |
| NM_001164545.2:c.1372C>T (DISC1) | NP_001158017.1:p.Leu458Phe | |
| NM_001164548.2:c.1372C>T (DISC1) | NP_001158020.1:p.Leu458Phe | |
| NM_001164556.2:c.322C>T (DISC1) | NP_001158028.1:p.Leu108Phe |