Linked Data
ClinVar Variation Id:
377521
dbSNP Id:
rs540266635
ExAC:
11:108205767 A / C
gnomAD v2:
11-108205767-A-C
gnomAD v3:
11-108335040-A-C
gnomAD v4:
11-108335040-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108335040A>C , CM000673.2:g.108335040A>C | GRCh38 |
| NC_000011.9:g.108205767A>C , CM000673.1:g.108205767A>C | GRCh37 |
| NC_000011.8:g.107710977A>C | NCBI36 |
| NG_009830.1:g.117209A>C , LRG_135:g.117209A>C | |
| NG_054724.1:g.139793T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8082A>C (ATM) | ENSP00000388058.2:p.Gly2694= | |
| ENST00000713593.1:c.*7553A>C (ATM) | ENSP00000518889.1:n.*7553A>C | |
| ENST00000278616.9:c.8082A>C (ATM) | ENSP00000278616.4:p.Gly2694= | |
| ENST00000525056.2:n.2501A>C (ATM) | ||
| ENST00000638786.2:n.780A>C (ATM) | ||
| ENST00000682286.1:n.2839A>C (ATM) | ||
| ENST00000682302.1:n.2500A>C (ATM) | ||
| ENST00000683174.1:n.9566A>C (ATM) | ||
| ENST00000683524.1:n.3306A>C (ATM) | ||
| ENST00000684152.1:n.3498A>C (ATM) | ||
| ENST00000684180.1:n.556A>C (ATM) | ||
| ENST00000684447.1:n.4575A>C (ATM) | ||
| ENST00000527805.6:c.*3146A>C (ATM) | ENSP00000435747.2:n.*3146A>C | |
| ENST00000675595.1:c.*3217A>C (ATM) | ENSP00000502563.1:n.*3217A>C | |
| ENST00000675843.1:c.8082A>C (ATM) MANE Select | ENSP00000501606.1:p.Gly2694= | |
| ENST00000278616.8:c.8082A>C (ATM) | ENSP00000278616.4:p.Gly2694= | |
| ENST00000452508.6:c.8082A>C (ATM) | ENSP00000388058.2:p.Gly2694= | |
| ENST00000524755.5:c.299+180T>G (C11orf65) | ||
| ENST00000524792.5:n.4297A>C (ATM) | ||
| ENST00000525056.1:n.279A>C (ATM) | ||
| ENST00000525729.5:c.641-25969T>G (C11orf65) | ENSP00000433395.1:n.641-25969T>G | |
| ENST00000527531.5:c.*1269+180T>G (C11orf65) | ENSP00000431706.1:n.*1269+180T>G | |
| ENST00000533979.5:n.294A>C (ATM) | ||
| ENST00000615746.4:c.*1269+180T>G (C11orf65) | ENSP00000483537.1:n.*1269+180T>G | |
| NM_000051.3:c.8082A>C , LRG_135t1:c.8082A>C (ATM) | NP_000042.3:p.Gly2694= | |
| XM_005271414.3:c.*38+180T>G (C11orf65) | XP_005271471.1:n.*38+180T>G | |
| XM_005271415.3:c.804+180T>G (C11orf65) | XP_005271472.1:n.804+180T>G | |
| XM_005271561.3:c.8082A>C (ATM) | XP_005271618.2:p.Gly2694= | |
| XM_005271562.3:c.8082A>C (ATM) | XP_005271619.2:p.Gly2694= | |
| XM_006718843.2:c.8082A>C (ATM) | XP_006718906.1:p.Gly2694= | |
| XM_006718845.1:c.4038A>C (ATM) | XP_006718908.1:p.Gly1346= | |
| XM_011542840.1:c.8082A>C (ATM) | XP_011541142.1:p.Gly2694= | |
| XM_011542841.1:c.8082A>C (ATM) | XP_011541143.1:p.Gly2694= | |
| XM_011542842.1:c.7917A>C (ATM) | XP_011541144.1:p.Gly2639= | |
| XM_011542843.1:c.8082A>C (ATM) | XP_011541145.1:p.Gly2694= | |
| XM_011542844.1:c.7038A>C (ATM) | XP_011541146.1:p.Gly2346= | |
| XM_011542845.1:c.6774A>C (ATM) | XP_011541147.1:p.Gly2258= | |
| XM_011542847.1:c.3153A>C (ATM) | XP_011541149.1:p.Gly1051= | |
| NM_001330368.1:c.641-25969T>G (C11orf65) | NP_001317297.1:n.641-25969T>G | |
| NM_001351110.1:c.*38+180T>G (C11orf65) | NP_001338039.1:n.*38+180T>G | |
| NM_001351834.1:c.8082A>C (ATM) | NP_001338763.1:p.Gly2694= | |
| NR_147053.2:n.2374+180T>G (C11orf65) | ||
| XM_005271414.4:c.*38+180T>G (C11orf65) | XP_005271471.1:n.*38+180T>G | |
| XM_005271415.4:c.804+180T>G (C11orf65) | XP_005271472.1:n.804+180T>G | |
| XM_005271562.5:c.8082A>C (ATM) | XP_005271619.2:p.Gly2694= | |
| XM_006718843.4:c.8082A>C (ATM) | XP_006718906.1:p.Gly2694= | |
| XM_006718845.2:c.4038A>C (ATM) | XP_006718908.1:p.Gly1346= | |
| XM_011542840.3:c.8082A>C (ATM) | XP_011541142.1:p.Gly2694= | |
| XM_011542842.3:c.7917A>C (ATM) | XP_011541144.1:p.Gly2639= | |
| XM_011542843.2:c.8082A>C (ATM) | XP_011541145.1:p.Gly2694= | |
| XM_011542844.3:c.7038A>C (ATM) | XP_011541146.1:p.Gly2346= | |
| XM_011542845.2:c.6774A>C (ATM) | XP_011541147.1:p.Gly2258= | |
| XM_017017789.2:c.8082A>C (ATM) | XP_016873278.1:p.Gly2694= | |
| XM_017017790.2:c.8082A>C (ATM) | XP_016873279.1:p.Gly2694= | |
| NM_001330368.2:c.641-25969T>G (C11orf65) | NP_001317297.1:n.641-25969T>G | |
| NM_001351110.2:c.*38+180T>G (C11orf65) | NP_001338039.1:n.*38+180T>G | |
| NM_001351834.2:c.8082A>C (ATM) | NP_001338763.1:p.Gly2694= | |
| NM_000051.4:c.8082A>C (ATM) MANE Select | NP_000042.3:p.Gly2694= | |
| NR_147053.3:n.2372+180T>G (C11orf65) |