Canonical Allele Identifier: CA382529725

Gene: ATM

Linked Data

• dbSNP Id: rs2135750388
• MyVariant Identifiers: chr11:g.108159707T>A (hg19) ; chr11:g.108288980T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108288980T>A , CM000673.2:g.108288980T>A	GRCh38
NC_000011.9:g.108159707T>A , CM000673.1:g.108159707T>A	GRCh37
NC_000011.8:g.107664917T>A	NCBI36
NG_009830.1:g.71149T>A , LRG_135:g.71149T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4113T>A	ENSP00000388058.2:p.Asp1371Glu
ENST00000713593.1:c.*3584T>A	ENSP00000518889.1:n.*3584T>A
ENST00000278616.9:c.4113T>A	ENSP00000278616.4:p.Asp1371Glu
ENST00000533733.6:n.1376T>A
ENST00000683174.1:n.4263T>A
ENST00000527805.6:c.4113T>A	ENSP00000435747.2:p.Asp1371Glu
ENST00000675595.1:c.3948T>A	ENSP00000502563.1:p.Asp1316Glu
ENST00000675843.1:c.4113T>A MANE Select	ENSP00000501606.1:p.Asp1371Glu
ENST00000278616.8:c.4113T>A	ENSP00000278616.4:p.Asp1371Glu
ENST00000452508.6:c.4113T>A	ENSP00000388058.2:p.Asp1371Glu
ENST00000524792.5:n.328T>A
ENST00000531525.2:c.120T>A	ENSP00000434327.2:p.Asp40Glu
ENST00000533733.5:n.542T>A
NM_000051.3:c.4113T>A , LRG_135t1:c.4113T>A	NP_000042.3:p.Asp1371Glu
XM_005271561.3:c.4113T>A	XP_005271618.2:p.Asp1371Glu
XM_005271562.3:c.4113T>A	XP_005271619.2:p.Asp1371Glu
XM_006718843.2:c.4113T>A	XP_006718906.1:p.Asp1371Glu
XM_006718845.1:c.69T>A	XP_006718908.1:p.Asp23Glu
XM_011542840.1:c.4113T>A	XP_011541142.1:p.Asp1371Glu
XM_011542841.1:c.4113T>A	XP_011541143.1:p.Asp1371Glu
XM_011542842.1:c.3948T>A	XP_011541144.1:p.Asp1316Glu
XM_011542843.1:c.4113T>A	XP_011541145.1:p.Asp1371Glu
XM_011542844.1:c.3069T>A	XP_011541146.1:p.Asp1023Glu
XM_011542845.1:c.2805T>A	XP_011541147.1:p.Asp935Glu
XM_011542846.1:c.4113T>A	XP_011541148.1:p.Asp1371Glu
NM_001351834.1:c.4113T>A	NP_001338763.1:p.Asp1371Glu
XM_005271562.5:c.4113T>A	XP_005271619.2:p.Asp1371Glu
XM_006718843.4:c.4113T>A	XP_006718906.1:p.Asp1371Glu
XM_006718845.2:c.69T>A	XP_006718908.1:p.Asp23Glu
XM_011542840.3:c.4113T>A	XP_011541142.1:p.Asp1371Glu
XM_011542842.3:c.3948T>A	XP_011541144.1:p.Asp1316Glu
XM_011542843.2:c.4113T>A	XP_011541145.1:p.Asp1371Glu
XM_011542844.3:c.3069T>A	XP_011541146.1:p.Asp1023Glu
XM_011542845.2:c.2805T>A	XP_011541147.1:p.Asp935Glu
XM_017017789.2:c.4113T>A	XP_016873278.1:p.Asp1371Glu
XM_017017790.2:c.4113T>A	XP_016873279.1:p.Asp1371Glu
XM_017017791.1:c.4113T>A	XP_016873280.1:p.Asp1371Glu
XM_017017792.2:c.4113T>A	XP_016873281.1:p.Asp1371Glu
XR_002957150.1:n.4846T>A
NM_001351834.2:c.4113T>A	NP_001338763.1:p.Asp1371Glu
NM_000051.4:c.4113T>A MANE Select	NP_000042.3:p.Asp1371Glu