Linked Data
ClinVar Variation Id:
3036
ClinVar RCV Id:
RCV000003175
RCV000220229
RCV000484232
RCV001250440
RCV001270953
RCV001391206
RCV003318492
dbSNP Id:
rs121434220
gnomAD v2:
11-108200960-C-T
gnomAD v4:
11-108330233-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108330233C>T , CM000673.2:g.108330233C>T | GRCh38 |
| NC_000011.9:g.108200960C>T , CM000673.1:g.108200960C>T | GRCh37 |
| NC_000011.8:g.107706170C>T | NCBI36 |
| NG_009830.1:g.112402C>T , LRG_135:g.112402C>T | |
| NG_054724.1:g.144600G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7327C>T (ATM) | ENSP00000388058.2:p.Arg2443Ter | |
| ENST00000713593.1:c.*6798C>T (ATM) | ENSP00000518889.1:n.*6798C>T | |
| ENST00000278616.9:c.7327C>T (ATM) | ENSP00000278616.4:p.Arg2443Ter | |
| ENST00000525056.2:n.1746C>T (ATM) | ||
| ENST00000525537.3:n.284C>T (ATM) | ||
| ENST00000638786.2:n.164C>T (ATM) | ||
| ENST00000682286.1:n.2084C>T (ATM) | ||
| ENST00000682302.1:n.1745C>T (ATM) | ||
| ENST00000683174.1:n.8811C>T (ATM) | ||
| ENST00000683524.1:n.2551C>T (ATM) | ||
| ENST00000684152.1:n.3041C>T (ATM) | ||
| ENST00000684447.1:n.1790C>T (ATM) | ||
| ENST00000527805.6:c.*2391C>T (ATM) | ENSP00000435747.2:n.*2391C>T | |
| ENST00000675595.1:c.*2462C>T (ATM) | ENSP00000502563.1:n.*2462C>T | |
| ENST00000675843.1:c.7327C>T (ATM) MANE Select | ENSP00000501606.1:p.Arg2443Ter | |
| ENST00000278616.8:c.7327C>T (ATM) | ENSP00000278616.4:p.Arg2443Ter | |
| ENST00000452508.6:c.7327C>T (ATM) | ENSP00000388058.2:p.Arg2443Ter | |
| ENST00000524792.5:n.3542C>T (ATM) | ||
| ENST00000525729.5:c.641-21162G>A (C11orf65) | ENSP00000433395.1:n.641-21162G>A | |
| ENST00000533690.5:n.2731C>T (ATM) | ||
| NM_000051.3:c.7327C>T , LRG_135t1:c.7327C>T (ATM) | NP_000042.3:p.Arg2443Ter | |
| XM_005271561.3:c.7327C>T (ATM) | XP_005271618.2:p.Arg2443Ter | |
| XM_005271562.3:c.7327C>T (ATM) | XP_005271619.2:p.Arg2443Ter | |
| XM_006718843.2:c.7327C>T (ATM) | XP_006718906.1:p.Arg2443Ter | |
| XM_006718845.1:c.3283C>T (ATM) | XP_006718908.1:p.Arg1095Ter | |
| XM_011542840.1:c.7327C>T (ATM) | XP_011541142.1:p.Arg2443Ter | |
| XM_011542841.1:c.7327C>T (ATM) | XP_011541143.1:p.Arg2443Ter | |
| XM_011542842.1:c.7162C>T (ATM) | XP_011541144.1:p.Arg2388Ter | |
| XM_011542843.1:c.7327C>T (ATM) | XP_011541145.1:p.Arg2443Ter | |
| XM_011542844.1:c.6283C>T (ATM) | XP_011541146.1:p.Arg2095Ter | |
| XM_011542845.1:c.6019C>T (ATM) | XP_011541147.1:p.Arg2007Ter | |
| XM_011542847.1:c.2398C>T (ATM) | XP_011541149.1:p.Arg800Ter | |
| NM_001330368.1:c.641-21162G>A (C11orf65) | NP_001317297.1:n.641-21162G>A | |
| NM_001351110.1:c.*38+4987G>A (C11orf65) | NP_001338039.1:n.*38+4987G>A | |
| NM_001351834.1:c.7327C>T (ATM) | NP_001338763.1:p.Arg2443Ter | |
| XM_005271562.5:c.7327C>T (ATM) | XP_005271619.2:p.Arg2443Ter | |
| XM_006718843.4:c.7327C>T (ATM) | XP_006718906.1:p.Arg2443Ter | |
| XM_006718845.2:c.3283C>T (ATM) | XP_006718908.1:p.Arg1095Ter | |
| XM_011542840.3:c.7327C>T (ATM) | XP_011541142.1:p.Arg2443Ter | |
| XM_011542842.3:c.7162C>T (ATM) | XP_011541144.1:p.Arg2388Ter | |
| XM_011542843.2:c.7327C>T (ATM) | XP_011541145.1:p.Arg2443Ter | |
| XM_011542844.3:c.6283C>T (ATM) | XP_011541146.1:p.Arg2095Ter | |
| XM_011542845.2:c.6019C>T (ATM) | XP_011541147.1:p.Arg2007Ter | |
| XM_017017789.2:c.7327C>T (ATM) | XP_016873278.1:p.Arg2443Ter | |
| XM_017017790.2:c.7327C>T (ATM) | XP_016873279.1:p.Arg2443Ter | |
| NM_001330368.2:c.641-21162G>A (C11orf65) | NP_001317297.1:n.641-21162G>A | |
| NM_001351110.2:c.*38+4987G>A (C11orf65) | NP_001338039.1:n.*38+4987G>A | |
| NM_001351834.2:c.7327C>T (ATM) | NP_001338763.1:p.Arg2443Ter | |
| NM_000051.4:c.7327C>T (ATM) MANE Select | NP_000042.3:p.Arg2443Ter |