Linked Data
ClinVar Variation Id:
161798
ClinVar RCV Id:
RCV000149334
dbSNP Id:
rs193921104
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41727508G>T , CM000685.2:g.41727508G>T | GRCh38 |
| NC_000023.10:g.41586761G>T , CM000685.1:g.41586761G>T | GRCh37 |
| NC_000023.9:g.41471705G>T | NCBI36 |
| NG_016566.1:g.8354G>T | |
| NG_016754.1:g.200527C>A | |
| NG_016754.2:g.200527C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302548.5:c.482G>T (GPR82) MANE Select | ENSP00000303549.4:p.Gly161Val | |
| ENST00000378154.3:c.429+11876C>A (CASK) | ENSP00000367396.2:n.429+11876C>A | |
| ENST00000378158.6:c.429+11876C>A (CASK) | ENSP00000367400.2:n.429+11876C>A | |
| ENST00000378163.7:c.429+11876C>A (CASK) MANE Select | ENSP00000367405.1:n.429+11876C>A | |
| ENST00000378166.9:c.429+11876C>A (CASK) | ENSP00000367408.5:n.429+11876C>A | |
| ENST00000378168.8:c.447+11876C>A (CASK) | ENSP00000367410.4:n.447+11876C>A | |
| ENST00000421587.8:c.447+11876C>A (CASK) | ENSP00000400526.4:n.447+11876C>A | |
| ENST00000442742.7:c.429+11876C>A (CASK) | ENSP00000398007.3:n.429+11876C>A | |
| ENST00000642361.2:c.336+11876C>A (CASK) | ENSP00000496025.1:n.336+11876C>A | |
| ENST00000643831.2:c.429+11876C>A (CASK) | ENSP00000494388.2:n.429+11876C>A | |
| ENST00000643853.1:n.143+11876C>A (CASK) | ||
| ENST00000644219.1:c.429+11876C>A (CASK) | ENSP00000495357.1:n.429+11876C>A | |
| ENST00000644347.1:c.429+11876C>A (CASK) | ENSP00000494183.1:n.429+11876C>A | |
| ENST00000645566.1:c.429+11876C>A (CASK) | ENSP00000494788.1:n.429+11876C>A | |
| ENST00000645986.2:c.429+11876C>A (CASK) | ENSP00000494409.2:n.429+11876C>A | |
| ENST00000646120.2:c.429+11876C>A (CASK) | ENSP00000495291.2:n.429+11876C>A | |
| ENST00000647118.2:c.*116+11876C>A (CASK) | ENSP00000493700.1:n.*116+11876C>A | |
| ENST00000675354.1:c.447+11876C>A (CASK) | ENSP00000502315.1:n.447+11876C>A | |
| ENST00000302548.4:c.482G>T (GPR82) | ENSP00000303549.4:p.Gly161Val | |
| ENST00000378154.1:c.429+11876C>A (CASK) | ENSP00000367396.1:n.429+11876C>A | |
| ENST00000378158.5:c.429+11876C>A (CASK) | ENSP00000367400.1:n.429+11876C>A | |
| ENST00000378163.5:c.429+11876C>A (CASK) | ENSP00000367405.1:n.429+11876C>A | |
| ENST00000378166.8:c.429+11876C>A (CASK) | ENSP00000367408.4:n.429+11876C>A | |
| ENST00000421587.6:c.429+11876C>A (CASK) | ENSP00000400526.2:n.429+11876C>A | |
| ENST00000442742.6:c.429+11876C>A (CASK) | ENSP00000398007.2:n.429+11876C>A | |
| NM_001126054.2:c.429+11876C>A (CASK) | NP_001119526.1:n.429+11876C>A | |
| NM_001126055.2:c.429+11876C>A (CASK) | NP_001119527.1:n.429+11876C>A | |
| NM_003688.3:c.429+11876C>A (CASK) | NP_003679.2:n.429+11876C>A | |
| NM_080817.4:c.482G>T (GPR82) | NP_543007.1:p.Gly161Val | |
| XM_005272686.3:c.429+11876C>A (CASK) | XP_005272743.1:n.429+11876C>A | |
| XM_006724566.2:c.429+11876C>A (CASK) | XP_006724629.1:n.429+11876C>A | |
| XM_011543993.1:c.447+11876C>A (CASK) | XP_011542295.1:n.447+11876C>A | |
| XM_011543994.1:c.447+11876C>A (CASK) | XP_011542296.1:n.447+11876C>A | |
| XM_011543995.1:c.447+11876C>A (CASK) | XP_011542297.1:n.447+11876C>A | |
| XM_011543996.1:c.447+11876C>A (CASK) | XP_011542298.1:n.447+11876C>A | |
| XM_005272686.4:c.429+11876C>A (CASK) | XP_005272743.1:n.429+11876C>A | |
| XM_006724566.3:c.429+11876C>A (CASK) | XP_006724629.1:n.429+11876C>A | |
| XM_011543993.2:c.447+11876C>A (CASK) | XP_011542295.1:n.447+11876C>A | |
| XM_011543994.2:c.447+11876C>A (CASK) | XP_011542296.1:n.447+11876C>A | |
| XM_011543995.2:c.447+11876C>A (CASK) | XP_011542297.1:n.447+11876C>A | |
| XM_011543996.2:c.447+11876C>A (CASK) | XP_011542298.1:n.447+11876C>A | |
| NM_001367721.1:c.429+11876C>A (CASK) MANE Select | NP_001354650.1:n.429+11876C>A | |
| NM_080817.5:c.482G>T (GPR82) MANE Select | NP_543007.1:p.Gly161Val |