Linked Data
ClinVar Variation Id:
230416
ClinVar RCV Id:
RCV001526927
RCV003469000
RCV003441794
RCV000223476
RCV000347894
RCV001030605
RCV003491969
dbSNP Id:
rs779145081
ExAC:
11:108206666 A / T
gnomAD v2:
11-108206666-A-T
gnomAD v3:
11-108335939-A-T
gnomAD v4:
11-108335939-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108335939A>T , CM000673.2:g.108335939A>T | GRCh38 |
| NC_000011.9:g.108206666A>T , CM000673.1:g.108206666A>T | GRCh37 |
| NC_000011.8:g.107711876A>T | NCBI36 |
| NG_009830.1:g.118108A>T , LRG_135:g.118108A>T | |
| NG_054724.1:g.138894T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8246A>T (ATM) | ENSP00000388058.2:p.Lys2749Ile | |
| ENST00000713593.1:c.*7717A>T (ATM) | ENSP00000518889.1:n.*7717A>T | |
| ENST00000278616.9:c.8246A>T (ATM) | ENSP00000278616.4:p.Lys2749Ile | |
| ENST00000525056.2:n.2665A>T (ATM) | ||
| ENST00000638786.2:n.944A>T (ATM) | ||
| ENST00000682286.1:n.3003A>T (ATM) | ||
| ENST00000682302.1:n.2664A>T (ATM) | ||
| ENST00000683174.1:n.9730A>T (ATM) | ||
| ENST00000683524.1:n.3470A>T (ATM) | ||
| ENST00000684152.1:n.3662A>T (ATM) | ||
| ENST00000684180.1:n.720A>T (ATM) | ||
| ENST00000684447.1:n.4739A>T (ATM) | ||
| ENST00000527805.6:c.*3310A>T (ATM) | ENSP00000435747.2:n.*3310A>T | |
| ENST00000675595.1:c.*3381A>T (ATM) | ENSP00000502563.1:n.*3381A>T | |
| ENST00000675843.1:c.8246A>T (ATM) MANE Select | ENSP00000501606.1:p.Lys2749Ile | |
| ENST00000278616.8:c.8246A>T (ATM) | ENSP00000278616.4:p.Lys2749Ile | |
| ENST00000452508.6:c.8246A>T (ATM) | ENSP00000388058.2:p.Lys2749Ile | |
| ENST00000524755.5:c.227-647T>A (C11orf65) | ||
| ENST00000524792.5:n.4461A>T (ATM) | ||
| ENST00000525056.1:n.443A>T (ATM) | ||
| ENST00000525729.5:c.641-26868T>A (C11orf65) | ENSP00000433395.1:n.641-26868T>A | |
| ENST00000527531.5:c.*1197-647T>A (C11orf65) | ENSP00000431706.1:n.*1197-647T>A | |
| ENST00000533979.5:n.458A>T (ATM) | ||
| ENST00000615746.4:c.*1197-647T>A (C11orf65) | ENSP00000483537.1:n.*1197-647T>A | |
| NM_000051.3:c.8246A>T , LRG_135t1:c.8246A>T (ATM) | NP_000042.3:p.Lys2749Ile | |
| XM_005271414.3:c.788-647T>A (C11orf65) | XP_005271471.1:n.788-647T>A | |
| XM_005271415.3:c.732-647T>A (C11orf65) | XP_005271472.1:n.732-647T>A | |
| XM_005271561.3:c.8246A>T (ATM) | XP_005271618.2:p.Lys2749Ile | |
| XM_005271562.3:c.8246A>T (ATM) | XP_005271619.2:p.Lys2749Ile | |
| XM_006718843.2:c.8246A>T (ATM) | XP_006718906.1:p.Lys2749Ile | |
| XM_006718845.1:c.4202A>T (ATM) | XP_006718908.1:p.Lys1401Ile | |
| XM_011542840.1:c.8246A>T (ATM) | XP_011541142.1:p.Lys2749Ile | |
| XM_011542841.1:c.8246A>T (ATM) | XP_011541143.1:p.Lys2749Ile | |
| XM_011542842.1:c.8081A>T (ATM) | XP_011541144.1:p.Lys2694Ile | |
| XM_011542843.1:c.8246A>T (ATM) | XP_011541145.1:p.Lys2749Ile | |
| XM_011542844.1:c.7202A>T (ATM) | XP_011541146.1:p.Lys2401Ile | |
| XM_011542845.1:c.6938A>T (ATM) | XP_011541147.1:p.Lys2313Ile | |
| XM_011542847.1:c.3317A>T (ATM) | XP_011541149.1:p.Lys1106Ile | |
| NM_001330368.1:c.641-26868T>A (C11orf65) | NP_001317297.1:n.641-26868T>A | |
| NM_001351110.1:c.695-647T>A (C11orf65) | NP_001338039.1:n.695-647T>A | |
| NM_001351834.1:c.8246A>T (ATM) | NP_001338763.1:p.Lys2749Ile | |
| NR_147053.2:n.2302-647T>A (C11orf65) | ||
| XM_005271414.4:c.788-647T>A (C11orf65) | XP_005271471.1:n.788-647T>A | |
| XM_005271415.4:c.732-647T>A (C11orf65) | XP_005271472.1:n.732-647T>A | |
| XM_005271562.5:c.8246A>T (ATM) | XP_005271619.2:p.Lys2749Ile | |
| XM_006718843.4:c.8246A>T (ATM) | XP_006718906.1:p.Lys2749Ile | |
| XM_006718845.2:c.4202A>T (ATM) | XP_006718908.1:p.Lys1401Ile | |
| XM_011542840.3:c.8246A>T (ATM) | XP_011541142.1:p.Lys2749Ile | |
| XM_011542842.3:c.8081A>T (ATM) | XP_011541144.1:p.Lys2694Ile | |
| XM_011542843.2:c.8246A>T (ATM) | XP_011541145.1:p.Lys2749Ile | |
| XM_011542844.3:c.7202A>T (ATM) | XP_011541146.1:p.Lys2401Ile | |
| XM_011542845.2:c.6938A>T (ATM) | XP_011541147.1:p.Lys2313Ile | |
| XM_017017789.2:c.8246A>T (ATM) | XP_016873278.1:p.Lys2749Ile | |
| XM_017017790.2:c.8246A>T (ATM) | XP_016873279.1:p.Lys2749Ile | |
| NM_001330368.2:c.641-26868T>A (C11orf65) | NP_001317297.1:n.641-26868T>A | |
| NM_001351110.2:c.695-647T>A (C11orf65) | NP_001338039.1:n.695-647T>A | |
| NM_001351834.2:c.8246A>T (ATM) | NP_001338763.1:p.Lys2749Ile | |
| NM_000051.4:c.8246A>T (ATM) MANE Select | NP_000042.3:p.Lys2749Ile | |
| NR_147053.3:n.2300-647T>A (C11orf65) |