Linked Data
ClinVar Variation Id:
142187
dbSNP Id:
rs587782292
ExAC:
11:108236086 C / T
gnomAD v2:
11-108236086-C-T
gnomAD v3:
11-108365359-C-T
gnomAD v4:
11-108365359-C-T
CIViC:
CA294307
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108365359C>T , CM000673.2:g.108365359C>T | GRCh38 |
| NC_000011.9:g.108236086C>T , CM000673.1:g.108236086C>T | GRCh37 |
| NC_000011.8:g.107741296C>T | NCBI36 |
| NG_009830.1:g.147528C>T , LRG_135:g.147528C>T | |
| NG_054724.1:g.109474G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.9022C>T (ATM) | ENSP00000388058.2:p.Arg3008Cys | |
| ENST00000713593.1:c.*8493C>T (ATM) | ENSP00000518889.1:n.*8493C>T | |
| ENST00000278616.9:c.9022C>T (ATM) | ENSP00000278616.4:p.Arg3008Cys | |
| ENST00000638786.2:n.1720C>T (ATM) | ||
| ENST00000682286.1:n.3779C>T (ATM) | ||
| ENST00000682302.1:n.3440C>T (ATM) | ||
| ENST00000682569.1:n.2369C>T (ATM) | ||
| ENST00000683174.1:n.10506C>T (ATM) | ||
| ENST00000683524.1:n.4246C>T (ATM) | ||
| ENST00000684152.1:n.4438C>T (ATM) | ||
| ENST00000684180.1:n.1496C>T (ATM) | ||
| ENST00000684447.1:n.5515C>T (ATM) | ||
| ENST00000527805.6:c.*4086C>T (ATM) | ENSP00000435747.2:n.*4086C>T | |
| ENST00000675595.1:c.*4157C>T (ATM) | ENSP00000502563.1:n.*4157C>T | |
| ENST00000675843.1:c.9022C>T (ATM) MANE Select | ENSP00000501606.1:p.Arg3008Cys | |
| ENST00000278616.8:c.9022C>T (ATM) | ENSP00000278616.4:p.Arg3008Cys | |
| ENST00000452508.6:c.9022C>T (ATM) | ENSP00000388058.2:p.Arg3008Cys | |
| ENST00000524755.5:c.226+27849G>A (C11orf65) | ||
| ENST00000524792.5:n.5237C>T (ATM) | ||
| ENST00000525178.5:n.510C>T (ATM) | ||
| ENST00000525729.5:c.640+20561G>A (C11orf65) | ENSP00000433395.1:n.640+20561G>A | |
| ENST00000526725.1:n.272-24995G>A (C11orf65) | ||
| ENST00000527181.1:n.361C>T (ATM) | ||
| ENST00000527531.5:c.*2-9250G>A (C11orf65) | ENSP00000431706.1:n.*2-9250G>A | |
| ENST00000615746.4:c.*2-9250G>A (C11orf65) | ENSP00000483537.1:n.*2-9250G>A | |
| NM_000051.3:c.9022C>T , LRG_135t1:c.9022C>T (ATM) | NP_000042.3:p.Arg3008Cys | |
| XM_005271414.3:c.787+20561G>A (C11orf65) | XP_005271471.1:n.787+20561G>A | |
| XM_005271415.3:c.731+27849G>A (C11orf65) | XP_005271472.1:n.731+27849G>A | |
| XM_005271561.3:c.9022C>T (ATM) | XP_005271618.2:p.Arg3008Cys | |
| XM_005271562.3:c.9022C>T (ATM) | XP_005271619.2:p.Arg3008Cys | |
| XM_006718843.2:c.9022C>T (ATM) | XP_006718906.1:p.Arg3008Cys | |
| XM_006718845.1:c.4978C>T (ATM) | XP_006718908.1:p.Arg1660Cys | |
| XM_011542640.1:c.787+20561G>A (C11orf65) | XP_011540942.1:n.787+20561G>A | |
| XM_011542642.1:c.732-16286G>A (C11orf65) | XP_011540944.1:n.732-16286G>A | |
| XM_011542643.1:c.732-24995G>A (C11orf65) | XP_011540945.1:n.732-24995G>A | |
| XM_011542840.1:c.9022C>T (ATM) | XP_011541142.1:p.Arg3008Cys | |
| XM_011542841.1:c.9022C>T (ATM) | XP_011541143.1:p.Arg3008Cys | |
| XM_011542842.1:c.8857C>T (ATM) | XP_011541144.1:p.Arg2953Cys | |
| XM_011542844.1:c.7978C>T (ATM) | XP_011541146.1:p.Arg2660Cys | |
| XM_011542845.1:c.7714C>T (ATM) | XP_011541147.1:p.Arg2572Cys | |
| XM_011542847.1:c.4093C>T (ATM) | XP_011541149.1:p.Arg1365Cys | |
| NM_001330368.1:c.640+20561G>A (C11orf65) | NP_001317297.1:n.640+20561G>A | |
| NM_001351110.1:c.694+20561G>A (C11orf65) | NP_001338039.1:n.694+20561G>A | |
| NM_001351834.1:c.9022C>T (ATM) | NP_001338763.1:p.Arg3008Cys | |
| NR_147053.2:n.1107-9250G>A (C11orf65) | ||
| XM_005271414.4:c.787+20561G>A (C11orf65) | XP_005271471.1:n.787+20561G>A | |
| XM_005271415.4:c.731+27849G>A (C11orf65) | XP_005271472.1:n.731+27849G>A | |
| XM_005271562.5:c.9022C>T (ATM) | XP_005271619.2:p.Arg3008Cys | |
| XM_006718843.4:c.9022C>T (ATM) | XP_006718906.1:p.Arg3008Cys | |
| XM_006718845.2:c.4978C>T (ATM) | XP_006718908.1:p.Arg1660Cys | |
| XM_011542640.2:c.787+20561G>A (C11orf65) | XP_011540942.1:n.787+20561G>A | |
| XM_011542643.2:c.732-24995G>A (C11orf65) | XP_011540945.1:n.732-24995G>A | |
| XM_011542840.3:c.9022C>T (ATM) | XP_011541142.1:p.Arg3008Cys | |
| XM_011542842.3:c.8857C>T (ATM) | XP_011541144.1:p.Arg2953Cys | |
| XM_011542844.3:c.7978C>T (ATM) | XP_011541146.1:p.Arg2660Cys | |
| XM_011542845.2:c.7714C>T (ATM) | XP_011541147.1:p.Arg2572Cys | |
| XM_017017247.1:c.903+17701G>A (C11orf65) | XP_016872736.1:n.903+17701G>A | |
| XM_017017789.2:c.9022C>T (ATM) | XP_016873278.1:p.Arg3008Cys | |
| XM_017017790.2:c.9022C>T (ATM) | XP_016873279.1:p.Arg3008Cys | |
| NM_001330368.2:c.640+20561G>A (C11orf65) | NP_001317297.1:n.640+20561G>A | |
| NM_001351110.2:c.694+20561G>A (C11orf65) | NP_001338039.1:n.694+20561G>A | |
| NM_001351834.2:c.9022C>T (ATM) | NP_001338763.1:p.Arg3008Cys | |
| NM_000051.4:c.9022C>T (ATM) MANE Select | NP_000042.3:p.Arg3008Cys | |
| NR_147053.3:n.1105-9250G>A (C11orf65) |