Linked Data
ClinVar Variation Id:
127468
ClinVar RCV Id:
RCV000115274
RCV000198158
RCV000212098
RCV000780893
RCV001535462
RCV002288591
RCV001374551
RCV004549574
RCV003492468
dbSNP Id:
rs201199629
ExAC:
11:108236150 G / A
gnomAD v2:
11-108236150-G-A
gnomAD v3:
11-108365423-G-A
gnomAD v4:
11-108365423-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108365423G>A , CM000673.2:g.108365423G>A | GRCh38 |
| NC_000011.9:g.108236150G>A , CM000673.1:g.108236150G>A | GRCh37 |
| NC_000011.8:g.107741360G>A | NCBI36 |
| NG_009830.1:g.147592G>A , LRG_135:g.147592G>A | |
| NG_054724.1:g.109410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.9086G>A (ATM) | ENSP00000388058.2:p.Gly3029Asp | |
| ENST00000713593.1:c.*8557G>A (ATM) | ENSP00000518889.1:n.*8557G>A | |
| ENST00000278616.9:c.9086G>A (ATM) | ENSP00000278616.4:p.Gly3029Asp | |
| ENST00000638786.2:n.1784G>A (ATM) | ||
| ENST00000682286.1:n.3843G>A (ATM) | ||
| ENST00000682302.1:n.3504G>A (ATM) | ||
| ENST00000682569.1:n.2433G>A (ATM) | ||
| ENST00000683174.1:n.10570G>A (ATM) | ||
| ENST00000683524.1:n.4310G>A (ATM) | ||
| ENST00000684152.1:n.4502G>A (ATM) | ||
| ENST00000684180.1:n.1560G>A (ATM) | ||
| ENST00000684447.1:n.5579G>A (ATM) | ||
| ENST00000527805.6:c.*4150G>A (ATM) | ENSP00000435747.2:n.*4150G>A | |
| ENST00000675595.1:c.*4221G>A (ATM) | ENSP00000502563.1:n.*4221G>A | |
| ENST00000675843.1:c.9086G>A (ATM) MANE Select | ENSP00000501606.1:p.Gly3029Asp | |
| ENST00000278616.8:c.9086G>A (ATM) | ENSP00000278616.4:p.Gly3029Asp | |
| ENST00000452508.6:c.9086G>A (ATM) | ENSP00000388058.2:p.Gly3029Asp | |
| ENST00000524755.5:c.226+27785C>T (C11orf65) | ||
| ENST00000524792.5:n.5301G>A (ATM) | ||
| ENST00000525178.5:n.574G>A (ATM) | ||
| ENST00000525729.5:c.640+20497C>T (C11orf65) | ENSP00000433395.1:n.640+20497C>T | |
| ENST00000526725.1:n.272-25059C>T (C11orf65) | ||
| ENST00000527181.1:n.425G>A (ATM) | ||
| ENST00000527531.5:c.*2-9314C>T (C11orf65) | ENSP00000431706.1:n.*2-9314C>T | |
| ENST00000615746.4:c.*2-9314C>T (C11orf65) | ENSP00000483537.1:n.*2-9314C>T | |
| NM_000051.3:c.9086G>A , LRG_135t1:c.9086G>A (ATM) | NP_000042.3:p.Gly3029Asp | |
| XM_005271414.3:c.787+20497C>T (C11orf65) | XP_005271471.1:n.787+20497C>T | |
| XM_005271415.3:c.731+27785C>T (C11orf65) | XP_005271472.1:n.731+27785C>T | |
| XM_005271561.3:c.9086G>A (ATM) | XP_005271618.2:p.Gly3029Asp | |
| XM_005271562.3:c.9086G>A (ATM) | XP_005271619.2:p.Gly3029Asp | |
| XM_006718843.2:c.9086G>A (ATM) | XP_006718906.1:p.Gly3029Asp | |
| XM_006718845.1:c.5042G>A (ATM) | XP_006718908.1:p.Gly1681Asp | |
| XM_011542640.1:c.787+20497C>T (C11orf65) | XP_011540942.1:n.787+20497C>T | |
| XM_011542642.1:c.732-16350C>T (C11orf65) | XP_011540944.1:n.732-16350C>T | |
| XM_011542643.1:c.732-25059C>T (C11orf65) | XP_011540945.1:n.732-25059C>T | |
| XM_011542840.1:c.9086G>A (ATM) | XP_011541142.1:p.Gly3029Asp | |
| XM_011542841.1:c.9086G>A (ATM) | XP_011541143.1:p.Gly3029Asp | |
| XM_011542842.1:c.8921G>A (ATM) | XP_011541144.1:p.Gly2974Asp | |
| XM_011542844.1:c.8042G>A (ATM) | XP_011541146.1:p.Gly2681Asp | |
| XM_011542845.1:c.7778G>A (ATM) | XP_011541147.1:p.Gly2593Asp | |
| XM_011542847.1:c.4157G>A (ATM) | XP_011541149.1:p.Gly1386Asp | |
| NM_001330368.1:c.640+20497C>T (C11orf65) | NP_001317297.1:n.640+20497C>T | |
| NM_001351110.1:c.694+20497C>T (C11orf65) | NP_001338039.1:n.694+20497C>T | |
| NM_001351834.1:c.9086G>A (ATM) | NP_001338763.1:p.Gly3029Asp | |
| NR_147053.2:n.1107-9314C>T (C11orf65) | ||
| XM_005271414.4:c.787+20497C>T (C11orf65) | XP_005271471.1:n.787+20497C>T | |
| XM_005271415.4:c.731+27785C>T (C11orf65) | XP_005271472.1:n.731+27785C>T | |
| XM_005271562.5:c.9086G>A (ATM) | XP_005271619.2:p.Gly3029Asp | |
| XM_006718843.4:c.9086G>A (ATM) | XP_006718906.1:p.Gly3029Asp | |
| XM_006718845.2:c.5042G>A (ATM) | XP_006718908.1:p.Gly1681Asp | |
| XM_011542640.2:c.787+20497C>T (C11orf65) | XP_011540942.1:n.787+20497C>T | |
| XM_011542643.2:c.732-25059C>T (C11orf65) | XP_011540945.1:n.732-25059C>T | |
| XM_011542840.3:c.9086G>A (ATM) | XP_011541142.1:p.Gly3029Asp | |
| XM_011542842.3:c.8921G>A (ATM) | XP_011541144.1:p.Gly2974Asp | |
| XM_011542844.3:c.8042G>A (ATM) | XP_011541146.1:p.Gly2681Asp | |
| XM_011542845.2:c.7778G>A (ATM) | XP_011541147.1:p.Gly2593Asp | |
| XM_017017247.1:c.903+17637C>T (C11orf65) | XP_016872736.1:n.903+17637C>T | |
| XM_017017789.2:c.9086G>A (ATM) | XP_016873278.1:p.Gly3029Asp | |
| XM_017017790.2:c.9086G>A (ATM) | XP_016873279.1:p.Gly3029Asp | |
| NM_001330368.2:c.640+20497C>T (C11orf65) | NP_001317297.1:n.640+20497C>T | |
| NM_001351110.2:c.694+20497C>T (C11orf65) | NP_001338039.1:n.694+20497C>T | |
| NM_001351834.2:c.9086G>A (ATM) | NP_001338763.1:p.Gly3029Asp | |
| NM_000051.4:c.9086G>A (ATM) MANE Select | NP_000042.3:p.Gly3029Asp | |
| NR_147053.3:n.1105-9314C>T (C11orf65) |