Linked Data
ClinVar Variation Id:
141579
dbSNP Id:
rs35203200
ExAC:
11:108202273 G / A
gnomAD v2:
11-108202273-G-A
gnomAD v3:
11-108331546-G-A
gnomAD v4:
11-108331546-G-A
PubMed:
PMID:26976419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108331546G>A , CM000673.2:g.108331546G>A | GRCh38 |
| NC_000011.9:g.108202273G>A , CM000673.1:g.108202273G>A | GRCh37 |
| NC_000011.8:g.107707483G>A | NCBI36 |
| NG_009830.1:g.113715G>A , LRG_135:g.113715G>A | |
| NG_054724.1:g.143287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.7618G>A (ATM) | ENSP00000388058.2:p.Val2540Ile | |
| ENST00000713593.1:c.*7089G>A (ATM) | ENSP00000518889.1:n.*7089G>A | |
| ENST00000278616.9:c.7618G>A (ATM) | ENSP00000278616.4:p.Val2540Ile | |
| ENST00000525056.2:n.2037G>A (ATM) | ||
| ENST00000525537.3:n.575G>A (ATM) | ||
| ENST00000638786.2:n.455G>A (ATM) | ||
| ENST00000682286.1:n.2375G>A (ATM) | ||
| ENST00000682302.1:n.2036G>A (ATM) | ||
| ENST00000683174.1:n.9102G>A (ATM) | ||
| ENST00000683524.1:n.2842G>A (ATM) | ||
| ENST00000684152.1:n.3332G>A (ATM) | ||
| ENST00000684447.1:n.2081G>A (ATM) | ||
| ENST00000527805.6:c.*2682G>A (ATM) | ENSP00000435747.2:n.*2682G>A | |
| ENST00000675595.1:c.*2753G>A (ATM) | ENSP00000502563.1:n.*2753G>A | |
| ENST00000675843.1:c.7618G>A (ATM) MANE Select | ENSP00000501606.1:p.Val2540Ile | |
| ENST00000278616.8:c.7618G>A (ATM) | ENSP00000278616.4:p.Val2540Ile | |
| ENST00000452508.6:c.7618G>A (ATM) | ENSP00000388058.2:p.Val2540Ile | |
| ENST00000524755.5:c.321C>T (C11orf65) | ||
| ENST00000524792.5:n.3833G>A (ATM) | ||
| ENST00000525729.5:c.641-22475C>T (C11orf65) | ENSP00000433395.1:n.641-22475C>T | |
| ENST00000527531.5:c.*1291C>T (C11orf65) | ENSP00000431706.1:n.*1291C>T | |
| ENST00000533690.5:n.3022G>A (ATM) | ||
| ENST00000615746.4:c.*1291C>T (C11orf65) | ENSP00000483537.1:n.*1291C>T | |
| NM_000051.3:c.7618G>A , LRG_135t1:c.7618G>A (ATM) | NP_000042.3:p.Val2540Ile | |
| XM_005271414.3:c.*60C>T (C11orf65) | XP_005271471.1:n.*60C>T | |
| XM_005271415.3:c.*4C>T (C11orf65) | XP_005271472.1:n.*4C>T | |
| XM_005271561.3:c.7618G>A (ATM) | XP_005271618.2:p.Val2540Ile | |
| XM_005271562.3:c.7618G>A (ATM) | XP_005271619.2:p.Val2540Ile | |
| XM_006718843.2:c.7618G>A (ATM) | XP_006718906.1:p.Val2540Ile | |
| XM_006718845.1:c.3574G>A (ATM) | XP_006718908.1:p.Val1192Ile | |
| XM_011542840.1:c.7618G>A (ATM) | XP_011541142.1:p.Val2540Ile | |
| XM_011542841.1:c.7618G>A (ATM) | XP_011541143.1:p.Val2540Ile | |
| XM_011542842.1:c.7453G>A (ATM) | XP_011541144.1:p.Val2485Ile | |
| XM_011542843.1:c.7618G>A (ATM) | XP_011541145.1:p.Val2540Ile | |
| XM_011542844.1:c.6574G>A (ATM) | XP_011541146.1:p.Val2192Ile | |
| XM_011542845.1:c.6310G>A (ATM) | XP_011541147.1:p.Val2104Ile | |
| XM_011542847.1:c.2689G>A (ATM) | XP_011541149.1:p.Val897Ile | |
| NM_001330368.1:c.641-22475C>T (C11orf65) | NP_001317297.1:n.641-22475C>T | |
| NM_001351110.1:c.*38+3674C>T (C11orf65) | NP_001338039.1:n.*38+3674C>T | |
| NM_001351834.1:c.7618G>A (ATM) | NP_001338763.1:p.Val2540Ile | |
| NR_147053.2:n.2396C>T (C11orf65) | ||
| XM_005271414.4:c.*60C>T (C11orf65) | XP_005271471.1:n.*60C>T | |
| XM_005271415.4:c.*4C>T (C11orf65) | XP_005271472.1:n.*4C>T | |
| XM_005271562.5:c.7618G>A (ATM) | XP_005271619.2:p.Val2540Ile | |
| XM_006718843.4:c.7618G>A (ATM) | XP_006718906.1:p.Val2540Ile | |
| XM_006718845.2:c.3574G>A (ATM) | XP_006718908.1:p.Val1192Ile | |
| XM_011542840.3:c.7618G>A (ATM) | XP_011541142.1:p.Val2540Ile | |
| XM_011542842.3:c.7453G>A (ATM) | XP_011541144.1:p.Val2485Ile | |
| XM_011542843.2:c.7618G>A (ATM) | XP_011541145.1:p.Val2540Ile | |
| XM_011542844.3:c.6574G>A (ATM) | XP_011541146.1:p.Val2192Ile | |
| XM_011542845.2:c.6310G>A (ATM) | XP_011541147.1:p.Val2104Ile | |
| XM_017017789.2:c.7618G>A (ATM) | XP_016873278.1:p.Val2540Ile | |
| XM_017017790.2:c.7618G>A (ATM) | XP_016873279.1:p.Val2540Ile | |
| NM_001330368.2:c.641-22475C>T (C11orf65) | NP_001317297.1:n.641-22475C>T | |
| NM_001351110.2:c.*38+3674C>T (C11orf65) | NP_001338039.1:n.*38+3674C>T | |
| NM_001351834.2:c.7618G>A (ATM) | NP_001338763.1:p.Val2540Ile | |
| NM_000051.4:c.7618G>A (ATM) MANE Select | NP_000042.3:p.Val2540Ile | |
| NR_147053.3:n.2394C>T (C11orf65) |