Canonical Allele Identifier: CA350670
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 219484
dbSNP Id: rs776309355

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302908T>C , CM000673.2:g.108302908T>C GRCh38
NC_000011.9:g.108173635T>C , CM000673.1:g.108173635T>C GRCh37
NC_000011.8:g.107678845T>C NCBI36
NG_009830.1:g.85077T>C , LRG_135:g.85077T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5375T>C ENSP00000388058.2:p.Ile1792Thr
ENST00000713593.1:c.*4846T>C ENSP00000518889.1:n.*4846T>C
ENST00000278616.9:c.5375T>C ENSP00000278616.4:p.Ile1792Thr
ENST00000683174.1:n.6859T>C
ENST00000683524.1:n.599T>C
ENST00000684152.1:n.1089T>C
ENST00000527805.6:c.*439T>C ENSP00000435747.2:n.*439T>C
ENST00000675595.1:c.*439T>C ENSP00000502563.1:n.*439T>C
ENST00000675843.1:c.5375T>C MANE Select ENSP00000501606.1:p.Ile1792Thr
ENST00000278616.8:c.5375T>C ENSP00000278616.4:p.Ile1792Thr
ENST00000452508.6:c.5375T>C ENSP00000388058.2:p.Ile1792Thr
ENST00000524792.5:n.1590T>C
ENST00000533690.5:n.779T>C
ENST00000534625.1:n.604T>C
NM_000051.3:c.5375T>C , LRG_135t1:c.5375T>C NP_000042.3:p.Ile1792Thr
XM_005271561.3:c.5375T>C XP_005271618.2:p.Ile1792Thr
XM_005271562.3:c.5375T>C XP_005271619.2:p.Ile1792Thr
XM_006718843.2:c.5375T>C XP_006718906.1:p.Ile1792Thr
XM_006718845.1:c.1331T>C XP_006718908.1:p.Ile444Thr
XM_011542840.1:c.5375T>C XP_011541142.1:p.Ile1792Thr
XM_011542841.1:c.5375T>C XP_011541143.1:p.Ile1792Thr
XM_011542842.1:c.5210T>C XP_011541144.1:p.Ile1737Thr
XM_011542843.1:c.5375T>C XP_011541145.1:p.Ile1792Thr
XM_011542844.1:c.4331T>C XP_011541146.1:p.Ile1444Thr
XM_011542845.1:c.4067T>C XP_011541147.1:p.Ile1356Thr
XM_011542846.1:c.*33T>C XP_011541148.1:n.*33T>C
XM_011542847.1:c.446T>C XP_011541149.1:p.Ile149Thr
NM_001351834.1:c.5375T>C NP_001338763.1:p.Ile1792Thr
XM_005271562.5:c.5375T>C XP_005271619.2:p.Ile1792Thr
XM_006718843.4:c.5375T>C XP_006718906.1:p.Ile1792Thr
XM_006718845.2:c.1331T>C XP_006718908.1:p.Ile444Thr
XM_011542840.3:c.5375T>C XP_011541142.1:p.Ile1792Thr
XM_011542842.3:c.5210T>C XP_011541144.1:p.Ile1737Thr
XM_011542843.2:c.5375T>C XP_011541145.1:p.Ile1792Thr
XM_011542844.3:c.4331T>C XP_011541146.1:p.Ile1444Thr
XM_011542845.2:c.4067T>C XP_011541147.1:p.Ile1356Thr
XM_017017789.2:c.5375T>C XP_016873278.1:p.Ile1792Thr
XM_017017790.2:c.5375T>C XP_016873279.1:p.Ile1792Thr
XM_017017791.1:c.5375T>C XP_016873280.1:p.Ile1792Thr
XM_017017792.2:c.*56T>C XP_016873281.1:n.*56T>C
XR_002957150.1:n.5975T>C
NM_001351834.2:c.5375T>C NP_001338763.1:p.Ile1792Thr
NM_000051.4:c.5375T>C MANE Select NP_000042.3:p.Ile1792Thr