Canonical Allele Identifier: CA157116
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 133619
dbSNP Id: rs3092856
COSMIC: COSM24627

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108289005C>T , CM000673.2:g.108289005C>T GRCh38
NC_000011.9:g.108159732C>T , CM000673.1:g.108159732C>T GRCh37
NC_000011.8:g.107664942C>T NCBI36
NG_009830.1:g.71174C>T , LRG_135:g.71174C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000527805.6:c.4138C>T ENSP00000435747.2:p.His1380Tyr
ENST00000675595.1:c.3973C>T ENSP00000502563.1:p.His1325Tyr
ENST00000675843.1:c.4138C>T MANE Select ENSP00000501606.1:p.His1380Tyr
ENST00000278616.8:c.4138C>T ENSP00000278616.4:p.His1380Tyr
ENST00000452508.6:c.4138C>T ENSP00000388058.2:p.His1380Tyr
ENST00000531525.2:n.145C>T ENSP00000434327.2:p.His49Tyr
NM_000051.3:c.4138C>T , LRG_135t1:c.4138C>T NP_000042.3:p.His1380Tyr
XM_005271561.3:c.4138C>T XP_005271618.2:p.His1380Tyr
XM_005271562.3:c.4138C>T XP_005271619.2:p.His1380Tyr
XM_006718843.2:c.4138C>T XP_006718906.1:p.His1380Tyr
XM_006718845.1:c.94C>T XP_006718908.1:p.His32Tyr
XM_011542840.1:c.4138C>T XP_011541142.1:p.His1380Tyr
XM_011542841.1:c.4138C>T XP_011541143.1:p.His1380Tyr
XM_011542842.1:c.3973C>T XP_011541144.1:p.His1325Tyr
XM_011542843.1:c.4138C>T XP_011541145.1:p.His1380Tyr
XM_011542844.1:c.3094C>T XP_011541146.1:p.His1032Tyr
XM_011542845.1:c.2830C>T XP_011541147.1:p.His944Tyr
XM_011542846.1:c.4138C>T XP_011541148.1:p.His1380Tyr
NM_001351834.1:c.4138C>T NP_001338763.1:p.His1380Tyr
XM_005271562.5:c.4138C>T XP_005271619.2:p.His1380Tyr
XM_006718843.4:c.4138C>T XP_006718906.1:p.His1380Tyr
XM_006718845.2:c.94C>T XP_006718908.1:p.His32Tyr
XM_011542840.3:c.4138C>T XP_011541142.1:p.His1380Tyr
XM_011542842.3:c.3973C>T XP_011541144.1:p.His1325Tyr
XM_011542843.2:c.4138C>T XP_011541145.1:p.His1380Tyr
XM_011542844.3:c.3094C>T XP_011541146.1:p.His1032Tyr
XM_011542845.2:c.2830C>T XP_011541147.1:p.His944Tyr
XM_017017789.2:c.4138C>T XP_016873278.1:p.His1380Tyr
XM_017017790.2:c.4138C>T XP_016873279.1:p.His1380Tyr
XM_017017791.1:c.4138C>T XP_016873280.1:p.His1380Tyr
XM_017017792.2:c.4138C>T XP_016873281.1:p.His1380Tyr
NM_001351834.2:c.4138C>T NP_001338763.1:p.His1380Tyr
NM_000051.4:c.4138C>T MANE Select NP_000042.3:p.His1380Tyr