Canonical Allele Identifier: CA382547831

Gene: ATM

Linked Data

• dbSNP Id: rs2135976443
• MyVariant Identifiers: chr11:g.108178649T>A (hg19) ; chr11:g.108307922T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307922T>A , CM000673.2:g.108307922T>A	GRCh38
NC_000011.9:g.108178649T>A , CM000673.1:g.108178649T>A	GRCh37
NC_000011.8:g.107683859T>A	NCBI36
NG_009830.1:g.90091T>A , LRG_135:g.90091T>A
NG_054724.1:g.166911A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5700T>A	ENSP00000388058.2:p.Cys1900Ter
ENST00000713593.1:c.*5171T>A	ENSP00000518889.1:n.*5171T>A
ENST00000278616.9:c.5700T>A	ENSP00000278616.4:p.Cys1900Ter
ENST00000525056.2:n.119T>A
ENST00000682286.1:n.457T>A
ENST00000682302.1:n.118T>A
ENST00000683174.1:n.7184T>A
ENST00000683524.1:n.924T>A
ENST00000684152.1:n.1414T>A
ENST00000527805.6:c.*764T>A	ENSP00000435747.2:n.*764T>A
ENST00000675595.1:c.*764T>A	ENSP00000502563.1:n.*764T>A
ENST00000675843.1:c.5700T>A MANE Select	ENSP00000501606.1:p.Cys1900Ter
ENST00000278616.8:c.5700T>A	ENSP00000278616.4:p.Cys1900Ter
ENST00000452508.6:c.5700T>A	ENSP00000388058.2:p.Cys1900Ter
ENST00000524792.5:n.1915T>A
ENST00000529588.5:c.187-2238T>A
ENST00000533690.5:n.1104T>A
NM_000051.3:c.5700T>A , LRG_135t1:c.5700T>A	NP_000042.3:p.Cys1900Ter
XM_005271561.3:c.5700T>A	XP_005271618.2:p.Cys1900Ter
XM_005271562.3:c.5700T>A	XP_005271619.2:p.Cys1900Ter
XM_006718843.2:c.5700T>A	XP_006718906.1:p.Cys1900Ter
XM_006718845.1:c.1656T>A	XP_006718908.1:p.Cys552Ter
XM_011542840.1:c.5700T>A	XP_011541142.1:p.Cys1900Ter
XM_011542841.1:c.5700T>A	XP_011541143.1:p.Cys1900Ter
XM_011542842.1:c.5535T>A	XP_011541144.1:p.Cys1845Ter
XM_011542843.1:c.5700T>A	XP_011541145.1:p.Cys1900Ter
XM_011542844.1:c.4656T>A	XP_011541146.1:p.Cys1552Ter
XM_011542845.1:c.4392T>A	XP_011541147.1:p.Cys1464Ter
XM_011542847.1:c.771T>A	XP_011541149.1:p.Cys257Ter
NM_001351834.1:c.5700T>A	NP_001338763.1:p.Cys1900Ter
XM_005271562.5:c.5700T>A	XP_005271619.2:p.Cys1900Ter
XM_006718843.4:c.5700T>A	XP_006718906.1:p.Cys1900Ter
XM_006718845.2:c.1656T>A	XP_006718908.1:p.Cys552Ter
XM_011542840.3:c.5700T>A	XP_011541142.1:p.Cys1900Ter
XM_011542842.3:c.5535T>A	XP_011541144.1:p.Cys1845Ter
XM_011542843.2:c.5700T>A	XP_011541145.1:p.Cys1900Ter
XM_011542844.3:c.4656T>A	XP_011541146.1:p.Cys1552Ter
XM_011542845.2:c.4392T>A	XP_011541147.1:p.Cys1464Ter
XM_017017789.2:c.5700T>A	XP_016873278.1:p.Cys1900Ter
XM_017017790.2:c.5700T>A	XP_016873279.1:p.Cys1900Ter
XM_017017791.1:c.5700T>A	XP_016873280.1:p.Cys1900Ter
XR_002957150.1:n.6300T>A
NM_001351834.2:c.5700T>A	NP_001338763.1:p.Cys1900Ter
NM_000051.4:c.5700T>A MANE Select	NP_000042.3:p.Cys1900Ter