Linked Data
ClinVar Variation Id:
305977
ClinVar RCV Id:
RCV000360561
dbSNP Id:
rs190307646
gnomAD v2:
11-71791727-T-A
gnomAD v3:
11-72080681-T-A
gnomAD v4:
11-72080681-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72080681T>A , CM000673.2:g.72080681T>A | GRCh38 |
| NC_000011.9:g.71791727T>A , CM000673.1:g.71791727T>A | GRCh37 |
| NC_000011.8:g.71469375T>A | NCBI36 |
| NG_021423.1:g.5346T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289488.7:c.-344T>A (LRRC51) | ENSP00000289488.2:n.-344T>A | |
| ENST00000535883.6:c.-221T>A (LRRC51) | ENSP00000437561.1:n.-221T>A | |
| ENST00000538413.6:c.-260T>A (LRRC51) | ENSP00000438762.2:n.-260T>A | |
| ENST00000539271.6:c.-414T>A (LRRC51) | ENSP00000442267.2:n.-414T>A | |
| ENST00000642510.1:c.-537T>A (LRRC51) | ENSP00000496544.1:n.-537T>A | |
| ENST00000642648.1:c.-221T>A (LRRC51) | ENSP00000494362.1:n.-221T>A | |
| ENST00000642813.1:n.116T>A (LRRC51) | ||
| ENST00000647530.1:c.-507T>A (LRRC51) | ENSP00000494072.1:n.-507T>A | |
| ENST00000289488.6:c.-344T>A (LRRC51) | ENSP00000289488.2:n.-344T>A | |
| ENST00000307198.11:c.-526T>A (LRRC51) | ENSP00000305742.7:n.-526T>A | |
| ENST00000393695.7:c.-326A>T (NUMA1) | ENSP00000377298.3:n.-326A>T | |
| ENST00000535883.5:c.-344T>A (LRRC51) | ENSP00000437561.1:n.-344T>A | |
| ENST00000538413.5:c.-221T>A (LRRC51) | ENSP00000438762.1:n.-221T>A | |
| ENST00000543450.1:n.13A>T (NUMA1) | ||
| ENST00000613205.4:c.-326A>T (NUMA1) | ENSP00000480172.1:n.-326A>T | |
| NM_001145307.4:c.-344T>A (LRTOMT) | NP_001138779.1:n.-344T>A | |
| NM_001145308.4:c.-526T>A (LRTOMT) | NP_001138780.1:n.-526T>A | |
| NM_001145309.3:c.-747T>A (LRTOMT) | NP_001138781.1:n.-747T>A | |
| NM_001145310.3:c.-747T>A (LRTOMT) | NP_001138782.1:n.-747T>A | |
| NM_001205138.3:c.-261T>A (LRTOMT) | NP_001192067.1:n.-261T>A | |
| NM_001271471.2:c.-344T>A (LRTOMT) | NP_001258400.1:n.-344T>A | |
| NM_001286561.1:c.-424A>T (NUMA1) | NP_001273490.1:n.-424A>T | |
| NM_006185.3:c.-326A>T (NUMA1) | NP_006176.2:n.-326A>T | |
| NM_145309.5:c.-344T>A (LRTOMT) | NP_660352.1:n.-344T>A | |
| NR_026886.3:n.351T>A (LRTOMT) | ||
| XM_006718473.2:c.-221T>A (LRTOMT) | XP_006718536.1:n.-221T>A | |
| XM_011545055.1:c.-326A>T (NUMA1) | XP_011543357.1:n.-326A>T | |
| NM_001318803.1:c.-301T>A (LRTOMT) | NP_001305732.1:n.-301T>A | |
| NR_134858.1:n.351T>A (LRTOMT) | ||
| XM_006718473.4:c.-221T>A (LRTOMT) | XP_006718536.1:n.-221T>A | |
| XM_006718474.4:c.-260T>A (LRTOMT) | XP_006718537.1:n.-260T>A | |
| XM_011544848.3:c.-507T>A (LRTOMT) | XP_011543150.1:n.-507T>A |