Canonical Allele Identifier: CA382543333
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302893A>C , CM000673.2:g.108302893A>C GRCh38
NC_000011.9:g.108173620A>C , CM000673.1:g.108173620A>C GRCh37
NC_000011.8:g.107678830A>C NCBI36
NG_009830.1:g.85062A>C , LRG_135:g.85062A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5360A>C ENSP00000388058.2:p.Glu1787Ala
ENST00000713593.1:c.*4831A>C ENSP00000518889.1:n.*4831A>C
ENST00000278616.9:c.5360A>C ENSP00000278616.4:p.Glu1787Ala
ENST00000683174.1:n.6844A>C
ENST00000683524.1:n.584A>C
ENST00000684152.1:n.1074A>C
ENST00000527805.6:c.*424A>C ENSP00000435747.2:n.*424A>C
ENST00000675595.1:c.*424A>C ENSP00000502563.1:n.*424A>C
ENST00000675843.1:c.5360A>C MANE Select ENSP00000501606.1:p.Glu1787Ala
ENST00000278616.8:c.5360A>C ENSP00000278616.4:p.Glu1787Ala
ENST00000452508.6:c.5360A>C ENSP00000388058.2:p.Glu1787Ala
ENST00000524792.5:n.1575A>C
ENST00000533690.5:n.764A>C
ENST00000534625.1:n.589A>C
NM_000051.3:c.5360A>C , LRG_135t1:c.5360A>C NP_000042.3:p.Glu1787Ala
XM_005271561.3:c.5360A>C XP_005271618.2:p.Glu1787Ala
XM_005271562.3:c.5360A>C XP_005271619.2:p.Glu1787Ala
XM_006718843.2:c.5360A>C XP_006718906.1:p.Glu1787Ala
XM_006718845.1:c.1316A>C XP_006718908.1:p.Glu439Ala
XM_011542840.1:c.5360A>C XP_011541142.1:p.Glu1787Ala
XM_011542841.1:c.5360A>C XP_011541143.1:p.Glu1787Ala
XM_011542842.1:c.5195A>C XP_011541144.1:p.Glu1732Ala
XM_011542843.1:c.5360A>C XP_011541145.1:p.Glu1787Ala
XM_011542844.1:c.4316A>C XP_011541146.1:p.Glu1439Ala
XM_011542845.1:c.4052A>C XP_011541147.1:p.Glu1351Ala
XM_011542846.1:c.*18A>C XP_011541148.1:n.*18A>C
XM_011542847.1:c.431A>C XP_011541149.1:p.Glu144Ala
NM_001351834.1:c.5360A>C NP_001338763.1:p.Glu1787Ala
XM_005271562.5:c.5360A>C XP_005271619.2:p.Glu1787Ala
XM_006718843.4:c.5360A>C XP_006718906.1:p.Glu1787Ala
XM_006718845.2:c.1316A>C XP_006718908.1:p.Glu439Ala
XM_011542840.3:c.5360A>C XP_011541142.1:p.Glu1787Ala
XM_011542842.3:c.5195A>C XP_011541144.1:p.Glu1732Ala
XM_011542843.2:c.5360A>C XP_011541145.1:p.Glu1787Ala
XM_011542844.3:c.4316A>C XP_011541146.1:p.Glu1439Ala
XM_011542845.2:c.4052A>C XP_011541147.1:p.Glu1351Ala
XM_017017789.2:c.5360A>C XP_016873278.1:p.Glu1787Ala
XM_017017790.2:c.5360A>C XP_016873279.1:p.Glu1787Ala
XM_017017791.1:c.5360A>C XP_016873280.1:p.Glu1787Ala
XM_017017792.2:c.*41A>C XP_016873281.1:n.*41A>C
XR_002957150.1:n.5960A>C
NM_001351834.2:c.5360A>C NP_001338763.1:p.Glu1787Ala
NM_000051.4:c.5360A>C MANE Select NP_000042.3:p.Glu1787Ala