Linked Data
ClinVar Variation Id:
127459
dbSNP Id:
rs587779872
ExAC:
11:108216545 C / T
gnomAD v2:
11-108216545-C-T
gnomAD v3:
11-108345818-C-T
gnomAD v4:
11-108345818-C-T
PubMed:
PMID:9443866
PMID:10817650
PMID:10873394
PMID:18634022
PMID:19431188
PMID:20301790
PMID:22017321
PMID:25040471
PMID:26022348
PMID:28195393
ERepo:
CA287019/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108345818C>T , CM000673.2:g.108345818C>T | GRCh38 |
| NC_000011.9:g.108216545C>T , CM000673.1:g.108216545C>T | GRCh37 |
| NC_000011.8:g.107721755C>T | NCBI36 |
| NG_009830.1:g.127987C>T , LRG_135:g.127987C>T | |
| NG_054724.1:g.129015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8494C>T (ATM) | ENSP00000388058.2:p.Arg2832Cys | |
| ENST00000713593.1:c.*7965C>T (ATM) | ENSP00000518889.1:n.*7965C>T | |
| ENST00000278616.9:c.8494C>T (ATM) | ENSP00000278616.4:p.Arg2832Cys | |
| ENST00000638786.2:n.1192C>T (ATM) | ||
| ENST00000682286.1:n.3251C>T (ATM) | ||
| ENST00000682302.1:n.2912C>T (ATM) | ||
| ENST00000683174.1:n.9978C>T (ATM) | ||
| ENST00000683524.1:n.3718C>T (ATM) | ||
| ENST00000684152.1:n.3910C>T (ATM) | ||
| ENST00000684180.1:n.968C>T (ATM) | ||
| ENST00000684447.1:n.4987C>T (ATM) | ||
| ENST00000527805.6:c.*3558C>T (ATM) | ENSP00000435747.2:n.*3558C>T | |
| ENST00000675595.1:c.*3629C>T (ATM) | ENSP00000502563.1:n.*3629C>T | |
| ENST00000675843.1:c.8494C>T (ATM) MANE Select | ENSP00000501606.1:p.Arg2832Cys | |
| ENST00000278616.8:c.8494C>T (ATM) | ENSP00000278616.4:p.Arg2832Cys | |
| ENST00000452508.6:c.8494C>T (ATM) | ENSP00000388058.2:p.Arg2832Cys | |
| ENST00000524755.5:c.227-10526G>A (C11orf65) | ||
| ENST00000524792.5:n.4709C>T (ATM) | ||
| ENST00000525729.5:c.641-36747G>A (C11orf65) | ENSP00000433395.1:n.641-36747G>A | |
| ENST00000526725.1:n.272-5454G>A (C11orf65) | ||
| ENST00000527531.5:c.*1196+9097G>A (C11orf65) | ENSP00000431706.1:n.*1196+9097G>A | |
| ENST00000615746.4:c.*1196+9097G>A (C11orf65) | ENSP00000483537.1:n.*1196+9097G>A | |
| NM_000051.3:c.8494C>T , LRG_135t1:c.8494C>T (ATM) | NP_000042.3:p.Arg2832Cys | |
| XM_005271414.3:c.788-10526G>A (C11orf65) | XP_005271471.1:n.788-10526G>A | |
| XM_005271415.3:c.732-10526G>A (C11orf65) | XP_005271472.1:n.732-10526G>A | |
| XM_005271561.3:c.8494C>T (ATM) | XP_005271618.2:p.Arg2832Cys | |
| XM_005271562.3:c.8494C>T (ATM) | XP_005271619.2:p.Arg2832Cys | |
| XM_006718843.2:c.8494C>T (ATM) | XP_006718906.1:p.Arg2832Cys | |
| XM_006718845.1:c.4450C>T (ATM) | XP_006718908.1:p.Arg1484Cys | |
| XM_011542640.1:c.788-5454G>A (C11orf65) | XP_011540942.1:n.788-5454G>A | |
| XM_011542643.1:c.732-5454G>A (C11orf65) | XP_011540945.1:n.732-5454G>A | |
| XM_011542840.1:c.8494C>T (ATM) | XP_011541142.1:p.Arg2832Cys | |
| XM_011542841.1:c.8494C>T (ATM) | XP_011541143.1:p.Arg2832Cys | |
| XM_011542842.1:c.8329C>T (ATM) | XP_011541144.1:p.Arg2777Cys | |
| XM_011542843.1:c.8494C>T (ATM) | XP_011541145.1:p.Arg2832Cys | |
| XM_011542844.1:c.7450C>T (ATM) | XP_011541146.1:p.Arg2484Cys | |
| XM_011542845.1:c.7186C>T (ATM) | XP_011541147.1:p.Arg2396Cys | |
| XM_011542847.1:c.3565C>T (ATM) | XP_011541149.1:p.Arg1189Cys | |
| NM_001330368.1:c.641-36747G>A (C11orf65) | NP_001317297.1:n.641-36747G>A | |
| NM_001351110.1:c.695-10526G>A (C11orf65) | NP_001338039.1:n.695-10526G>A | |
| NM_001351834.1:c.8494C>T (ATM) | NP_001338763.1:p.Arg2832Cys | |
| NR_147053.2:n.2301+9097G>A (C11orf65) | ||
| XM_005271414.4:c.788-10526G>A (C11orf65) | XP_005271471.1:n.788-10526G>A | |
| XM_005271415.4:c.732-10526G>A (C11orf65) | XP_005271472.1:n.732-10526G>A | |
| XM_005271562.5:c.8494C>T (ATM) | XP_005271619.2:p.Arg2832Cys | |
| XM_006718843.4:c.8494C>T (ATM) | XP_006718906.1:p.Arg2832Cys | |
| XM_006718845.2:c.4450C>T (ATM) | XP_006718908.1:p.Arg1484Cys | |
| XM_011542640.2:c.788-5454G>A (C11orf65) | XP_011540942.1:n.788-5454G>A | |
| XM_011542643.2:c.732-5454G>A (C11orf65) | XP_011540945.1:n.732-5454G>A | |
| XM_011542840.3:c.8494C>T (ATM) | XP_011541142.1:p.Arg2832Cys | |
| XM_011542842.3:c.8329C>T (ATM) | XP_011541144.1:p.Arg2777Cys | |
| XM_011542843.2:c.8494C>T (ATM) | XP_011541145.1:p.Arg2832Cys | |
| XM_011542844.3:c.7450C>T (ATM) | XP_011541146.1:p.Arg2484Cys | |
| XM_011542845.2:c.7186C>T (ATM) | XP_011541147.1:p.Arg2396Cys | |
| XM_017017247.1:c.904-5454G>A (C11orf65) | XP_016872736.1:n.904-5454G>A | |
| XM_017017789.2:c.8494C>T (ATM) | XP_016873278.1:p.Arg2832Cys | |
| XM_017017790.2:c.8494C>T (ATM) | XP_016873279.1:p.Arg2832Cys | |
| NM_001330368.2:c.641-36747G>A (C11orf65) | NP_001317297.1:n.641-36747G>A | |
| NM_001351110.2:c.695-10526G>A (C11orf65) | NP_001338039.1:n.695-10526G>A | |
| NM_001351834.2:c.8494C>T (ATM) | NP_001338763.1:p.Arg2832Cys | |
| NM_000051.4:c.8494C>T (ATM) MANE Select | NP_000042.3:p.Arg2832Cys | |
| NR_147053.3:n.2299+9097G>A (C11orf65) |