Linked Data
ClinVar Variation Id:
306000
ClinVar RCV Id:
RCV000380965
dbSNP Id:
rs886048634
gnomAD v2:
11-71819879-C-T
gnomAD v3:
11-72108833-C-T
gnomAD v4:
11-72108833-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72108833C>T , CM000673.2:g.72108833C>T | GRCh38 |
| NC_000011.9:g.71819879C>T , CM000673.1:g.71819879C>T | GRCh37 |
| NC_000011.8:g.71497527C>T | NCBI36 |
| NG_021423.1:g.33498C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541899.3:c.685C>T (TOMT) MANE Select | ENSP00000494667.1:p.Arg229Cys | |
| ENST00000541899.2:c.685C>T (TOMT) | ENSP00000494667.1:p.Arg229Cys | |
| ENST00000643715.1:c.*195C>T (LRTOMT) | ENSP00000496019.1:n.*195C>T | |
| ENST00000307198.11:c.784C>T (LRRC51) | ENSP00000305742.7:p.Arg262Cys | |
| ENST00000419228.2:c.*195C>T (LRRC51) | ENSP00000392233.2:n.*195C>T | |
| ENST00000427369.6:c.*503C>T (LRRC51) | ENSP00000409403.2:n.*503C>T | |
| ENST00000435085.5:c.784C>T (LRRC51) | ENSP00000409789.1:p.Arg262Cys | |
| ENST00000502597.2:c.64-1228G>A (ANAPC15) | ENSP00000441774.1:n.64-1228G>A | |
| ENST00000538117.5:c.*141G>A (ANAPC15) | ENSP00000445212.1:n.*141G>A | |
| ENST00000543050.5:c.319-1228G>A (ANAPC15) | ENSP00000437360.1:n.319-1228G>A | |
| ENST00000544409.5:c.*503C>T (LRRC51) | ENSP00000440969.1:n.*503C>T | |
| NM_001145308.4:c.784C>T (LRTOMT) | NP_001138780.1:p.Arg262Cys | |
| NM_001145309.3:c.784C>T (LRTOMT) | NP_001138781.1:p.Arg262Cys | |
| NM_001145310.3:c.664C>T (LRTOMT) | NP_001138782.1:p.Arg222Cys | |
| XM_011544849.1:c.1009C>T (LRTOMT) | XP_011543151.1:p.Arg337Cys | |
| NM_001330321.1:c.319-1228G>A (ANAPC15) | NP_001317250.1:n.319-1228G>A | |
| XM_024448401.1:c.1009C>T (LRTOMT) | XP_024304169.1:p.Arg337Cys | |
| NM_001145308.5:c.784C>T (LRTOMT) | NP_001138780.1:p.Arg262Cys | |
| NM_001145309.4:c.784C>T (LRTOMT) | NP_001138781.1:p.Arg262Cys | |
| NM_001145310.4:c.664C>T (LRTOMT) | NP_001138782.1:p.Arg222Cys | |
| NM_001330321.2:c.319-1228G>A (ANAPC15) | NP_001317250.1:n.319-1228G>A | |
| NM_001393427.1:c.319-1228G>A (ANAPC15) | NP_001380356.1:n.319-1228G>A | |
| NM_001393428.1:c.319-1228G>A (ANAPC15) | NP_001380357.1:n.319-1228G>A | |
| NM_001393429.1:c.319-1228G>A (ANAPC15) | NP_001380358.1:n.319-1228G>A | |
| NM_001393430.1:c.319-1228G>A (ANAPC15) | NP_001380359.1:n.319-1228G>A | |
| NM_001393431.1:c.319-1228G>A (ANAPC15) | NP_001380360.1:n.319-1228G>A | |
| NM_001393443.1:c.361G>A (ANAPC15) | NP_001380372.1:p.Gly121Ser | |
| NM_001393444.1:c.361G>A (ANAPC15) | NP_001380373.1:p.Gly121Ser | |
| NM_001393445.1:c.361G>A (ANAPC15) | NP_001380374.1:p.Gly121Ser | |
| NM_001393459.1:c.64-1228G>A (ANAPC15) | NP_001380388.1:n.64-1228G>A | |
| NM_001393500.1:c.685C>T (TOMT) | NP_001380429.1:p.Arg229Cys | |
| NR_171687.1:n.610G>A (ANAPC15) | ||
| NM_001393500.2:c.685C>T (TOMT) MANE Select | NP_001380429.1:p.Arg229Cys |