Linked Data
ClinVar Variation Id:
127443
ClinVar RCV Id:
RCV000115249
RCV000119204
RCV000202803
RCV000589438
RCV001356727
RCV001798325
RCV004549571
dbSNP Id:
rs55801750
ExAC:
11:108201023 T / C
gnomAD v2:
11-108201023-T-C
gnomAD v3:
11-108330296-T-C
gnomAD v4:
11-108330296-T-C
COSMIC:
COSM758329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108330296T>C , CM000673.2:g.108330296T>C | GRCh38 |
| NC_000011.9:g.108201023T>C , CM000673.1:g.108201023T>C | GRCh37 |
| NC_000011.8:g.107706233T>C | NCBI36 |
| NG_009830.1:g.112465T>C , LRG_135:g.112465T>C | |
| NG_054724.1:g.144537A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7390T>C (ATM) | ENSP00000388058.2:p.Cys2464Arg | |
| ENST00000713593.1:c.*6861T>C (ATM) | ENSP00000518889.1:n.*6861T>C | |
| ENST00000278616.9:c.7390T>C (ATM) | ENSP00000278616.4:p.Cys2464Arg | |
| ENST00000525056.2:n.1809T>C (ATM) | ||
| ENST00000525537.3:n.347T>C (ATM) | ||
| ENST00000638786.2:n.227T>C (ATM) | ||
| ENST00000682286.1:n.2147T>C (ATM) | ||
| ENST00000682302.1:n.1808T>C (ATM) | ||
| ENST00000683174.1:n.8874T>C (ATM) | ||
| ENST00000683524.1:n.2614T>C (ATM) | ||
| ENST00000684152.1:n.3104T>C (ATM) | ||
| ENST00000684447.1:n.1853T>C (ATM) | ||
| ENST00000527805.6:c.*2454T>C (ATM) | ENSP00000435747.2:n.*2454T>C | |
| ENST00000675595.1:c.*2525T>C (ATM) | ENSP00000502563.1:n.*2525T>C | |
| ENST00000675843.1:c.7390T>C (ATM) MANE Select | ENSP00000501606.1:p.Cys2464Arg | |
| ENST00000278616.8:c.7390T>C (ATM) | ENSP00000278616.4:p.Cys2464Arg | |
| ENST00000452508.6:c.7390T>C (ATM) | ENSP00000388058.2:p.Cys2464Arg | |
| ENST00000524792.5:n.3605T>C (ATM) | ||
| ENST00000525729.5:c.641-21225A>G (C11orf65) | ENSP00000433395.1:n.641-21225A>G | |
| ENST00000533690.5:n.2794T>C (ATM) | ||
| NM_000051.3:c.7390T>C , LRG_135t1:c.7390T>C (ATM) | NP_000042.3:p.Cys2464Arg | |
| XM_005271561.3:c.7390T>C (ATM) | XP_005271618.2:p.Cys2464Arg | |
| XM_005271562.3:c.7390T>C (ATM) | XP_005271619.2:p.Cys2464Arg | |
| XM_006718843.2:c.7390T>C (ATM) | XP_006718906.1:p.Cys2464Arg | |
| XM_006718845.1:c.3346T>C (ATM) | XP_006718908.1:p.Cys1116Arg | |
| XM_011542840.1:c.7390T>C (ATM) | XP_011541142.1:p.Cys2464Arg | |
| XM_011542841.1:c.7390T>C (ATM) | XP_011541143.1:p.Cys2464Arg | |
| XM_011542842.1:c.7225T>C (ATM) | XP_011541144.1:p.Cys2409Arg | |
| XM_011542843.1:c.7390T>C (ATM) | XP_011541145.1:p.Cys2464Arg | |
| XM_011542844.1:c.6346T>C (ATM) | XP_011541146.1:p.Cys2116Arg | |
| XM_011542845.1:c.6082T>C (ATM) | XP_011541147.1:p.Cys2028Arg | |
| XM_011542847.1:c.2461T>C (ATM) | XP_011541149.1:p.Cys821Arg | |
| NM_001330368.1:c.641-21225A>G (C11orf65) | NP_001317297.1:n.641-21225A>G | |
| NM_001351110.1:c.*38+4924A>G (C11orf65) | NP_001338039.1:n.*38+4924A>G | |
| NM_001351834.1:c.7390T>C (ATM) | NP_001338763.1:p.Cys2464Arg | |
| XM_005271562.5:c.7390T>C (ATM) | XP_005271619.2:p.Cys2464Arg | |
| XM_006718843.4:c.7390T>C (ATM) | XP_006718906.1:p.Cys2464Arg | |
| XM_006718845.2:c.3346T>C (ATM) | XP_006718908.1:p.Cys1116Arg | |
| XM_011542840.3:c.7390T>C (ATM) | XP_011541142.1:p.Cys2464Arg | |
| XM_011542842.3:c.7225T>C (ATM) | XP_011541144.1:p.Cys2409Arg | |
| XM_011542843.2:c.7390T>C (ATM) | XP_011541145.1:p.Cys2464Arg | |
| XM_011542844.3:c.6346T>C (ATM) | XP_011541146.1:p.Cys2116Arg | |
| XM_011542845.2:c.6082T>C (ATM) | XP_011541147.1:p.Cys2028Arg | |
| XM_017017789.2:c.7390T>C (ATM) | XP_016873278.1:p.Cys2464Arg | |
| XM_017017790.2:c.7390T>C (ATM) | XP_016873279.1:p.Cys2464Arg | |
| NM_001330368.2:c.641-21225A>G (C11orf65) | NP_001317297.1:n.641-21225A>G | |
| NM_001351110.2:c.*38+4924A>G (C11orf65) | NP_001338039.1:n.*38+4924A>G | |
| NM_001351834.2:c.7390T>C (ATM) | NP_001338763.1:p.Cys2464Arg | |
| NM_000051.4:c.7390T>C (ATM) MANE Select | NP_000042.3:p.Cys2464Arg |