Canonical Allele Identifier: CA382543136

Gene: ATM

Linked Data

• dbSNP Id: rs2135927261
• MyVariant Identifiers: chr11:g.108173598T>G (hg19) ; chr11:g.108302871T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302871T>G , CM000673.2:g.108302871T>G	GRCh38
NC_000011.9:g.108173598T>G , CM000673.1:g.108173598T>G	GRCh37
NC_000011.8:g.107678808T>G	NCBI36
NG_009830.1:g.85040T>G , LRG_135:g.85040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5338T>G	ENSP00000388058.2:p.Phe1780Val
ENST00000713593.1:c.*4809T>G	ENSP00000518889.1:n.*4809T>G
ENST00000278616.9:c.5338T>G	ENSP00000278616.4:p.Phe1780Val
ENST00000683174.1:n.6822T>G
ENST00000683524.1:n.562T>G
ENST00000684152.1:n.1052T>G
ENST00000527805.6:c.*402T>G	ENSP00000435747.2:n.*402T>G
ENST00000675595.1:c.*402T>G	ENSP00000502563.1:n.*402T>G
ENST00000675843.1:c.5338T>G MANE Select	ENSP00000501606.1:p.Phe1780Val
ENST00000278616.8:c.5338T>G	ENSP00000278616.4:p.Phe1780Val
ENST00000452508.6:c.5338T>G	ENSP00000388058.2:p.Phe1780Val
ENST00000524792.5:n.1553T>G
ENST00000533690.5:n.742T>G
ENST00000534625.1:n.567T>G
NM_000051.3:c.5338T>G , LRG_135t1:c.5338T>G	NP_000042.3:p.Phe1780Val
XM_005271561.3:c.5338T>G	XP_005271618.2:p.Phe1780Val
XM_005271562.3:c.5338T>G	XP_005271619.2:p.Phe1780Val
XM_006718843.2:c.5338T>G	XP_006718906.1:p.Phe1780Val
XM_006718845.1:c.1294T>G	XP_006718908.1:p.Phe432Val
XM_011542840.1:c.5338T>G	XP_011541142.1:p.Phe1780Val
XM_011542841.1:c.5338T>G	XP_011541143.1:p.Phe1780Val
XM_011542842.1:c.5173T>G	XP_011541144.1:p.Phe1725Val
XM_011542843.1:c.5338T>G	XP_011541145.1:p.Phe1780Val
XM_011542844.1:c.4294T>G	XP_011541146.1:p.Phe1432Val
XM_011542845.1:c.4030T>G	XP_011541147.1:p.Phe1344Val
XM_011542846.1:c.5339T>G	XP_011541148.1:p.Ile1780Ser
XM_011542847.1:c.409T>G	XP_011541149.1:p.Phe137Val
NM_001351834.1:c.5338T>G	NP_001338763.1:p.Phe1780Val
XM_005271562.5:c.5338T>G	XP_005271619.2:p.Phe1780Val
XM_006718843.4:c.5338T>G	XP_006718906.1:p.Phe1780Val
XM_006718845.2:c.1294T>G	XP_006718908.1:p.Phe432Val
XM_011542840.3:c.5338T>G	XP_011541142.1:p.Phe1780Val
XM_011542842.3:c.5173T>G	XP_011541144.1:p.Phe1725Val
XM_011542843.2:c.5338T>G	XP_011541145.1:p.Phe1780Val
XM_011542844.3:c.4294T>G	XP_011541146.1:p.Phe1432Val
XM_011542845.2:c.4030T>G	XP_011541147.1:p.Phe1344Val
XM_017017789.2:c.5338T>G	XP_016873278.1:p.Phe1780Val
XM_017017790.2:c.5338T>G	XP_016873279.1:p.Phe1780Val
XM_017017791.1:c.5338T>G	XP_016873280.1:p.Phe1780Val
XM_017017792.2:c.*19T>G	XP_016873281.1:n.*19T>G
XR_002957150.1:n.5938T>G
NM_001351834.2:c.5338T>G	NP_001338763.1:p.Phe1780Val
NM_000051.4:c.5338T>G MANE Select	NP_000042.3:p.Phe1780Val