Linked Data
ClinVar Variation Id:
420728
ClinVar RCV Id:
RCV001204431
dbSNP Id:
rs759439613
ExAC:
11:108199748 G / C
gnomAD v2:
11-108199748-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108329021G>C , CM000673.2:g.108329021G>C | GRCh38 |
| NC_000011.9:g.108199748G>C , CM000673.1:g.108199748G>C | GRCh37 |
| NC_000011.8:g.107704958G>C | NCBI36 |
| NG_009830.1:g.111190G>C , LRG_135:g.111190G>C | |
| NG_054724.1:g.145812C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.7090G>C (ATM) | ENSP00000388058.2:p.Ala2364Pro | |
| ENST00000713593.1:c.*6561G>C (ATM) | ENSP00000518889.1:n.*6561G>C | |
| ENST00000278616.9:c.7090G>C (ATM) | ENSP00000278616.4:p.Ala2364Pro | |
| ENST00000525056.2:n.1509G>C (ATM) | ||
| ENST00000525537.3:n.47G>C (ATM) | ||
| ENST00000682286.1:n.1847G>C (ATM) | ||
| ENST00000682302.1:n.1508G>C (ATM) | ||
| ENST00000683174.1:n.8574G>C (ATM) | ||
| ENST00000683524.1:n.2314G>C (ATM) | ||
| ENST00000684152.1:n.2804G>C (ATM) | ||
| ENST00000684447.1:n.1553G>C (ATM) | ||
| ENST00000527805.6:c.*2154G>C (ATM) | ENSP00000435747.2:n.*2154G>C | |
| ENST00000675595.1:c.*2225G>C (ATM) | ENSP00000502563.1:n.*2225G>C | |
| ENST00000675843.1:c.7090G>C (ATM) MANE Select | ENSP00000501606.1:p.Ala2364Pro | |
| ENST00000278616.8:c.7090G>C (ATM) | ENSP00000278616.4:p.Ala2364Pro | |
| ENST00000452508.6:c.7090G>C (ATM) | ENSP00000388058.2:p.Ala2364Pro | |
| ENST00000524792.5:n.3305G>C (ATM) | ||
| ENST00000525537.2:n.366G>C (ATM) | ||
| ENST00000525729.5:c.641-19950C>G (C11orf65) | ENSP00000433395.1:n.641-19950C>G | |
| ENST00000527389.2:n.115G>C (ATM) | ||
| ENST00000533690.5:n.2494G>C (ATM) | ||
| NM_000051.3:c.7090G>C , LRG_135t1:c.7090G>C (ATM) | NP_000042.3:p.Ala2364Pro | |
| XM_005271561.3:c.7090G>C (ATM) | XP_005271618.2:p.Ala2364Pro | |
| XM_005271562.3:c.7090G>C (ATM) | XP_005271619.2:p.Ala2364Pro | |
| XM_006718843.2:c.7090G>C (ATM) | XP_006718906.1:p.Ala2364Pro | |
| XM_006718845.1:c.3046G>C (ATM) | XP_006718908.1:p.Ala1016Pro | |
| XM_011542840.1:c.7090G>C (ATM) | XP_011541142.1:p.Ala2364Pro | |
| XM_011542841.1:c.7090G>C (ATM) | XP_011541143.1:p.Ala2364Pro | |
| XM_011542842.1:c.6925G>C (ATM) | XP_011541144.1:p.Ala2309Pro | |
| XM_011542843.1:c.7090G>C (ATM) | XP_011541145.1:p.Ala2364Pro | |
| XM_011542844.1:c.6046G>C (ATM) | XP_011541146.1:p.Ala2016Pro | |
| XM_011542845.1:c.5782G>C (ATM) | XP_011541147.1:p.Ala1928Pro | |
| XM_011542847.1:c.2161G>C (ATM) | XP_011541149.1:p.Ala721Pro | |
| NM_001330368.1:c.641-19950C>G (C11orf65) | NP_001317297.1:n.641-19950C>G | |
| NM_001351110.1:c.*38+6199C>G (C11orf65) | NP_001338039.1:n.*38+6199C>G | |
| NM_001351834.1:c.7090G>C (ATM) | NP_001338763.1:p.Ala2364Pro | |
| XM_005271562.5:c.7090G>C (ATM) | XP_005271619.2:p.Ala2364Pro | |
| XM_006718843.4:c.7090G>C (ATM) | XP_006718906.1:p.Ala2364Pro | |
| XM_006718845.2:c.3046G>C (ATM) | XP_006718908.1:p.Ala1016Pro | |
| XM_011542840.3:c.7090G>C (ATM) | XP_011541142.1:p.Ala2364Pro | |
| XM_011542842.3:c.6925G>C (ATM) | XP_011541144.1:p.Ala2309Pro | |
| XM_011542843.2:c.7090G>C (ATM) | XP_011541145.1:p.Ala2364Pro | |
| XM_011542844.3:c.6046G>C (ATM) | XP_011541146.1:p.Ala2016Pro | |
| XM_011542845.2:c.5782G>C (ATM) | XP_011541147.1:p.Ala1928Pro | |
| XM_017017789.2:c.7090G>C (ATM) | XP_016873278.1:p.Ala2364Pro | |
| XM_017017790.2:c.7090G>C (ATM) | XP_016873279.1:p.Ala2364Pro | |
| NM_001330368.2:c.641-19950C>G (C11orf65) | NP_001317297.1:n.641-19950C>G | |
| NM_001351110.2:c.*38+6199C>G (C11orf65) | NP_001338039.1:n.*38+6199C>G | |
| NM_001351834.2:c.7090G>C (ATM) | NP_001338763.1:p.Ala2364Pro | |
| NM_000051.4:c.7090G>C (ATM) MANE Select | NP_000042.3:p.Ala2364Pro |