Canonical Allele Identifier: CA294000
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 140916
dbSNP Id: rs200381392

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108251932G>T , CM000673.2:g.108251932G>T GRCh38
NC_000011.9:g.108122659G>T , CM000673.1:g.108122659G>T GRCh37
NC_000011.8:g.107627869G>T NCBI36
NG_009830.1:g.34101G>T , LRG_135:g.34101G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.1703G>T ENSP00000388058.2:p.Arg568Ile
ENST00000713593.1:c.*1174G>T ENSP00000518889.1:n.*1174G>T
ENST00000278616.9:c.1703G>T ENSP00000278616.4:p.Arg568Ile
ENST00000682516.1:n.1837G>T
ENST00000683174.1:n.1853G>T
ENST00000683605.1:n.1198G>T
ENST00000684037.1:c.*638G>T ENSP00000508245.1:n.*638G>T
ENST00000684061.1:n.1837G>T
ENST00000527805.6:c.1703G>T ENSP00000435747.2:p.Arg568Ile
ENST00000675595.1:c.1538G>T ENSP00000502563.1:p.Arg513Ile
ENST00000675843.1:c.1703G>T MANE Select ENSP00000501606.1:p.Arg568Ile
ENST00000278616.8:c.1703G>T ENSP00000278616.4:p.Arg568Ile
ENST00000452508.6:c.1703G>T ENSP00000388058.2:p.Arg568Ile
ENST00000527805.5:c.1703G>T ENSP00000435747.1:p.Arg568Ile
NM_000051.3:c.1703G>T , LRG_135t1:c.1703G>T NP_000042.3:p.Arg568Ile
XM_005271561.3:c.1703G>T XP_005271618.2:p.Arg568Ile
XM_005271562.3:c.1703G>T XP_005271619.2:p.Arg568Ile
XM_006718843.2:c.1703G>T XP_006718906.1:p.Arg568Ile
XM_011542840.1:c.1703G>T XP_011541142.1:p.Arg568Ile
XM_011542841.1:c.1703G>T XP_011541143.1:p.Arg568Ile
XM_011542842.1:c.1538G>T XP_011541144.1:p.Arg513Ile
XM_011542843.1:c.1703G>T XP_011541145.1:p.Arg568Ile
XM_011542844.1:c.659G>T XP_011541146.1:p.Arg220Ile
XM_011542845.1:c.395G>T XP_011541147.1:p.Arg132Ile
XM_011542846.1:c.1703G>T XP_011541148.1:p.Arg568Ile
NM_001351834.1:c.1703G>T NP_001338763.1:p.Arg568Ile
XM_005271562.5:c.1703G>T XP_005271619.2:p.Arg568Ile
XM_006718843.4:c.1703G>T XP_006718906.1:p.Arg568Ile
XM_011542840.3:c.1703G>T XP_011541142.1:p.Arg568Ile
XM_011542842.3:c.1538G>T XP_011541144.1:p.Arg513Ile
XM_011542843.2:c.1703G>T XP_011541145.1:p.Arg568Ile
XM_011542844.3:c.659G>T XP_011541146.1:p.Arg220Ile
XM_011542845.2:c.395G>T XP_011541147.1:p.Arg132Ile
XM_017017789.2:c.1703G>T XP_016873278.1:p.Arg568Ile
XM_017017790.2:c.1703G>T XP_016873279.1:p.Arg568Ile
XM_017017791.1:c.1703G>T XP_016873280.1:p.Arg568Ile
XM_017017792.2:c.1703G>T XP_016873281.1:p.Arg568Ile
XR_002957150.1:n.2436G>T
NM_001351834.2:c.1703G>T NP_001338763.1:p.Arg568Ile
NM_000051.4:c.1703G>T MANE Select NP_000042.3:p.Arg568Ile