Linked Data
ClinVar Variation Id:
306010
ClinVar RCV Id:
RCV000371324
dbSNP Id:
rs776032348
gnomAD v4:
11-72109547-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72109547C>T , CM000673.2:g.72109547C>T | GRCh38 |
| NC_000011.9:g.71820593C>T , CM000673.1:g.71820593C>T | GRCh37 |
| NC_000011.8:g.71498241C>T | NCBI36 |
| NG_021423.1:g.34212C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541899.3:c.*622C>T (TOMT) MANE Select | ENSP00000494667.1:n.*622C>T | |
| ENST00000307198.11:c.*622C>T (LRRC51) | ENSP00000305742.7:n.*622C>T | |
| ENST00000419228.2:c.*909C>T (LRRC51) | ENSP00000392233.2:n.*909C>T | |
| ENST00000427369.6:c.*1217C>T (LRRC51) | ENSP00000409403.2:n.*1217C>T | |
| ENST00000435085.5:c.*622C>T (LRRC51) | ENSP00000409789.1:n.*622C>T | |
| ENST00000502597.2:c.63+541G>A (ANAPC15) | ENSP00000441774.1:n.63+541G>A | |
| ENST00000538117.5:c.319-206G>A (ANAPC15) | ENSP00000445212.1:n.319-206G>A | |
| ENST00000543050.5:c.318+541G>A (ANAPC15) | ENSP00000437360.1:n.318+541G>A | |
| ENST00000544409.5:c.*1217C>T (LRRC51) | ENSP00000440969.1:n.*1217C>T | |
| NM_001145308.4:c.*622C>T (LRTOMT) | NP_001138780.1:n.*622C>T | |
| NM_001145309.3:c.*622C>T (LRTOMT) | NP_001138781.1:n.*622C>T | |
| NM_001145310.3:c.*622C>T (LRTOMT) | NP_001138782.1:n.*622C>T | |
| NM_001330321.1:c.318+541G>A (ANAPC15) | NP_001317250.1:n.318+541G>A | |
| NM_001145308.5:c.*622C>T (LRTOMT) | NP_001138780.1:n.*622C>T | |
| NM_001145309.4:c.*622C>T (LRTOMT) | NP_001138781.1:n.*622C>T | |
| NM_001145310.4:c.*622C>T (LRTOMT) | NP_001138782.1:n.*622C>T | |
| NM_001330321.2:c.318+541G>A (ANAPC15) | NP_001317250.1:n.318+541G>A | |
| NM_001393427.1:c.318+541G>A (ANAPC15) | NP_001380356.1:n.318+541G>A | |
| NM_001393428.1:c.318+541G>A (ANAPC15) | NP_001380357.1:n.318+541G>A | |
| NM_001393429.1:c.318+541G>A (ANAPC15) | NP_001380358.1:n.318+541G>A | |
| NM_001393430.1:c.318+541G>A (ANAPC15) | NP_001380359.1:n.318+541G>A | |
| NM_001393431.1:c.318+541G>A (ANAPC15) | NP_001380360.1:n.318+541G>A | |
| NM_001393443.1:c.318+541G>A (ANAPC15) | NP_001380372.1:n.318+541G>A | |
| NM_001393444.1:c.318+541G>A (ANAPC15) | NP_001380373.1:n.318+541G>A | |
| NM_001393445.1:c.318+541G>A (ANAPC15) | NP_001380374.1:n.318+541G>A | |
| NM_001393459.1:c.63+541G>A (ANAPC15) | NP_001380388.1:n.63+541G>A | |
| NM_001393500.1:c.*622C>T (TOMT) | NP_001380429.1:n.*622C>T | |
| NR_171687.1:n.455-206G>A (ANAPC15) | ||
| NM_001393500.2:c.*622C>T (TOMT) MANE Select | NP_001380429.1:n.*622C>T |