Linked Data
ClinVar Variation Id:
306016
ClinVar RCV Id:
RCV000382493
dbSNP Id:
rs759367241
ExAC:
11:71821334 C / A
gnomAD v2:
11-71821334-C-A
gnomAD v3:
11-72110288-C-A
gnomAD v4:
11-72110288-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72110288C>A , CM000673.2:g.72110288C>A | GRCh38 |
| NC_000011.9:g.71821334C>A , CM000673.1:g.71821334C>A | GRCh37 |
| NC_000011.8:g.71498982C>A | NCBI36 |
| NG_021423.1:g.34953C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227618.9:c.181-63G>T (ANAPC15) MANE Select | ENSP00000227618.4:n.181-63G>T | |
| ENST00000227618.8:c.181-63G>T (ANAPC15) | ENSP00000227618.4:n.181-63G>T | |
| ENST00000307198.11:c.*1363C>A (LRRC51) | ENSP00000305742.7:n.*1363C>A | |
| ENST00000419228.2:c.*1650C>A (LRRC51) | ENSP00000392233.2:n.*1650C>A | |
| ENST00000427369.6:c.*1958C>A (LRRC51) | ENSP00000409403.2:n.*1958C>A | |
| ENST00000435085.5:c.*1363C>A (LRRC51) | ENSP00000409789.1:n.*1363C>A | |
| ENST00000438939.6:c.181-27G>T (ANAPC15) | ENSP00000389730.2:n.181-27G>T | |
| ENST00000502597.2:c.-75-63G>T (ANAPC15) | ENSP00000441774.1:n.-75-63G>T | |
| ENST00000535234.5:c.181-63G>T (ANAPC15) | ENSP00000446412.1:n.181-63G>T | |
| ENST00000535503.5:c.181-63G>T (ANAPC15) | ENSP00000443383.1:n.181-63G>T | |
| ENST00000537644.5:c.181-27G>T (ANAPC15) | ENSP00000437683.1:n.181-27G>T | |
| ENST00000538117.5:c.181-63G>T (ANAPC15) | ENSP00000445212.1:n.181-63G>T | |
| ENST00000538393.5:c.181-63G>T (ANAPC15) | ENSP00000440002.1:n.181-63G>T | |
| ENST00000538919.5:c.181-63G>T (ANAPC15) | ENSP00000440983.1:n.181-63G>T | |
| ENST00000542531.5:c.181-63G>T (ANAPC15) | ENSP00000443911.1:n.181-63G>T | |
| ENST00000543050.5:c.181-63G>T (ANAPC15) | ENSP00000437360.1:n.181-63G>T | |
| ENST00000543587.5:c.181-63G>T (ANAPC15) | ENSP00000439403.1:n.181-63G>T | |
| ENST00000544409.5:c.*1958C>A (LRRC51) | ENSP00000440969.1:n.*1958C>A | |
| ENST00000545333.5:c.181-63G>T (ANAPC15) | ENSP00000439362.1:n.181-63G>T | |
| ENST00000545680.5:c.181-63G>T (ANAPC15) | ENSP00000443645.1:n.181-63G>T | |
| ENST00000545944.5:c.181-63G>T (ANAPC15) | ENSP00000446383.1:n.181-63G>T | |
| NM_001145308.4:c.*1363C>A (LRTOMT) | NP_001138780.1:n.*1363C>A | |
| NM_001145309.3:c.*1363C>A (LRTOMT) | NP_001138781.1:n.*1363C>A | |
| NM_001145310.3:c.*1363C>A (LRTOMT) | NP_001138782.1:n.*1363C>A | |
| NM_001278485.1:c.181-63G>T (ANAPC15) | NP_001265414.1:n.181-63G>T | |
| NM_001278486.1:c.181-63G>T (ANAPC15) | NP_001265415.1:n.181-63G>T | |
| NM_001278487.1:c.181-63G>T (ANAPC15) | NP_001265416.1:n.181-63G>T | |
| NM_001278488.1:c.181-63G>T (ANAPC15) | NP_001265417.1:n.181-63G>T | |
| NM_001278489.1:c.181-63G>T (ANAPC15) | NP_001265418.1:n.181-63G>T | |
| NM_001278490.1:c.181-63G>T (ANAPC15) | NP_001265419.1:n.181-63G>T | |
| NM_001278491.1:c.181-63G>T (ANAPC15) | NP_001265420.1:n.181-63G>T | |
| NM_001278492.1:c.181-63G>T (ANAPC15) | NP_001265421.1:n.181-63G>T | |
| NM_001278493.1:c.181-63G>T (ANAPC15) | NP_001265422.1:n.181-63G>T | |
| NM_001278494.1:c.181-63G>T (ANAPC15) | NP_001265423.1:n.181-63G>T | |
| NM_014042.2:c.181-63G>T (ANAPC15) | NP_054761.1:n.181-63G>T | |
| NM_001330321.1:c.181-63G>T (ANAPC15) | NP_001317250.1:n.181-63G>T | |
| XM_017017496.1:c.181-63G>T (ANAPC15) | XP_016872985.1:n.181-63G>T | |
| XM_017017497.1:c.181-63G>T (ANAPC15) | XP_016872986.1:n.181-63G>T | |
| NM_001145308.5:c.*1363C>A (LRTOMT) | NP_001138780.1:n.*1363C>A | |
| NM_001145309.4:c.*1363C>A (LRTOMT) | NP_001138781.1:n.*1363C>A | |
| NM_001145310.4:c.*1363C>A (LRTOMT) | NP_001138782.1:n.*1363C>A | |
| NM_001278485.2:c.181-63G>T (ANAPC15) | NP_001265414.1:n.181-63G>T | |
| NM_001278486.2:c.181-63G>T (ANAPC15) | NP_001265415.1:n.181-63G>T | |
| NM_001278487.2:c.181-63G>T (ANAPC15) | NP_001265416.1:n.181-63G>T | |
| NM_001278489.2:c.181-63G>T (ANAPC15) | NP_001265418.1:n.181-63G>T | |
| NM_001278490.2:c.181-63G>T (ANAPC15) | NP_001265419.1:n.181-63G>T | |
| NM_001330321.2:c.181-63G>T (ANAPC15) | NP_001317250.1:n.181-63G>T | |
| NM_014042.3:c.181-63G>T (ANAPC15) MANE Select | NP_054761.1:n.181-63G>T | |
| NM_001278488.2:c.181-63G>T (ANAPC15) | NP_001265417.1:n.181-63G>T | |
| NM_001278492.2:c.181-63G>T (ANAPC15) | NP_001265421.1:n.181-63G>T | |
| NM_001278493.2:c.181-63G>T (ANAPC15) | NP_001265422.1:n.181-63G>T | |
| NM_001278494.2:c.181-63G>T (ANAPC15) | NP_001265423.1:n.181-63G>T | |
| NM_001393427.1:c.181-63G>T (ANAPC15) | NP_001380356.1:n.181-63G>T | |
| NM_001393428.1:c.181-63G>T (ANAPC15) | NP_001380357.1:n.181-63G>T | |
| NM_001393429.1:c.181-63G>T (ANAPC15) | NP_001380358.1:n.181-63G>T | |
| NM_001393430.1:c.181-63G>T (ANAPC15) | NP_001380359.1:n.181-63G>T | |
| NM_001393431.1:c.181-63G>T (ANAPC15) | NP_001380360.1:n.181-63G>T | |
| NM_001393432.1:c.181-27G>T (ANAPC15) | NP_001380361.1:n.181-27G>T | |
| NM_001393433.1:c.181-27G>T (ANAPC15) | NP_001380362.1:n.181-27G>T | |
| NM_001393434.1:c.181-27G>T (ANAPC15) | NP_001380363.1:n.181-27G>T | |
| NM_001393435.1:c.181-27G>T (ANAPC15) | NP_001380364.1:n.181-27G>T | |
| NM_001393436.1:c.181-27G>T (ANAPC15) | NP_001380365.1:n.181-27G>T | |
| NM_001393437.1:c.181-63G>T (ANAPC15) | NP_001380366.1:n.181-63G>T | |
| NM_001393438.1:c.181-63G>T (ANAPC15) | NP_001380367.1:n.181-63G>T | |
| NM_001393439.1:c.181-63G>T (ANAPC15) | NP_001380368.1:n.181-63G>T | |
| NM_001393440.1:c.181-63G>T (ANAPC15) | NP_001380369.1:n.181-63G>T | |
| NM_001393441.1:c.181-63G>T (ANAPC15) | NP_001380370.1:n.181-63G>T | |
| NM_001393442.1:c.181-63G>T (ANAPC15) | NP_001380371.1:n.181-63G>T | |
| NM_001393443.1:c.181-63G>T (ANAPC15) | NP_001380372.1:n.181-63G>T | |
| NM_001393444.1:c.181-63G>T (ANAPC15) | NP_001380373.1:n.181-63G>T | |
| NM_001393445.1:c.181-63G>T (ANAPC15) | NP_001380374.1:n.181-63G>T | |
| NM_001393446.1:c.181-63G>T (ANAPC15) | NP_001380375.1:n.181-63G>T | |
| NM_001393447.1:c.181-63G>T (ANAPC15) | NP_001380376.1:n.181-63G>T | |
| NM_001393448.1:c.181-63G>T (ANAPC15) | NP_001380377.1:n.181-63G>T | |
| NM_001393449.1:c.181-63G>T (ANAPC15) | NP_001380378.1:n.181-63G>T | |
| NM_001393450.1:c.181-63G>T (ANAPC15) | NP_001380379.1:n.181-63G>T | |
| NM_001393451.1:c.181-63G>T (ANAPC15) | NP_001380380.1:n.181-63G>T | |
| NM_001393452.1:c.181-63G>T (ANAPC15) | NP_001380381.1:n.181-63G>T | |
| NM_001393453.1:c.181-63G>T (ANAPC15) | NP_001380382.1:n.181-63G>T | |
| NM_001393454.1:c.181-63G>T (ANAPC15) | NP_001380383.1:n.181-63G>T | |
| NM_001393455.1:c.181-63G>T (ANAPC15) | NP_001380384.1:n.181-63G>T | |
| NM_001393456.1:c.181-63G>T (ANAPC15) | NP_001380385.1:n.181-63G>T | |
| NM_001393457.1:c.181-63G>T (ANAPC15) | NP_001380386.1:n.181-63G>T | |
| NM_001393458.1:c.181-63G>T (ANAPC15) | NP_001380387.1:n.181-63G>T | |
| NM_001393459.1:c.-75-63G>T (ANAPC15) | NP_001380388.1:n.-75-63G>T | |
| NR_171684.1:n.192-63G>T (ANAPC15) | ||
| NR_171685.1:n.192-63G>T (ANAPC15) | ||
| NR_171686.1:n.107-63G>T (ANAPC15) | ||
| NR_171687.1:n.317-63G>T (ANAPC15) |