Canonical Allele Identifier: CA476673581

Gene: ATM

Linked Data

• ClinVar Variation Id: 744350
• ClinVar RCV Id: RCV001021728
• dbSNP Id: rs1591655790
• MyVariant Identifiers: chr11:g.108158371G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287644G>A , CM000673.2:g.108287644G>A	GRCh38
NC_000011.9:g.108158371G>A , CM000673.1:g.108158371G>A	GRCh37
NC_000011.8:g.107663581G>A	NCBI36
NG_009830.1:g.69813G>A , LRG_135:g.69813G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4038G>A	ENSP00000388058.2:p.Glu1346=
ENST00000713593.1:c.*3509G>A	ENSP00000518889.1:n.*3509G>A
ENST00000278616.9:c.4038G>A	ENSP00000278616.4:p.Glu1346=
ENST00000533733.6:n.1301G>A
ENST00000683174.1:n.4188G>A
ENST00000527805.6:c.4038G>A	ENSP00000435747.2:p.Glu1346=
ENST00000675595.1:c.3873G>A	ENSP00000502563.1:p.Glu1291=
ENST00000675843.1:c.4038G>A MANE Select	ENSP00000501606.1:p.Glu1346=
ENST00000278616.8:c.4038G>A	ENSP00000278616.4:p.Glu1346=
ENST00000452508.6:c.4038G>A	ENSP00000388058.2:p.Glu1346=
ENST00000524792.5:n.253G>A
ENST00000527805.5:c.4038G>A	ENSP00000435747.1:p.Glu1346=
ENST00000531525.2:c.45G>A	ENSP00000434327.2:p.Glu15=
ENST00000533733.5:n.467G>A
NM_000051.3:c.4038G>A , LRG_135t1:c.4038G>A	NP_000042.3:p.Glu1346=
XM_005271561.3:c.4038G>A	XP_005271618.2:p.Glu1346=
XM_005271562.3:c.4038G>A	XP_005271619.2:p.Glu1346=
XM_006718843.2:c.4038G>A	XP_006718906.1:p.Glu1346=
XM_006718845.1:c.-7G>A	XP_006718908.1:n.-7G>A
XM_011542840.1:c.4038G>A	XP_011541142.1:p.Glu1346=
XM_011542841.1:c.4038G>A	XP_011541143.1:p.Glu1346=
XM_011542842.1:c.3873G>A	XP_011541144.1:p.Glu1291=
XM_011542843.1:c.4038G>A	XP_011541145.1:p.Glu1346=
XM_011542844.1:c.2994G>A	XP_011541146.1:p.Glu998=
XM_011542845.1:c.2730G>A	XP_011541147.1:p.Glu910=
XM_011542846.1:c.4038G>A	XP_011541148.1:p.Glu1346=
NM_001351834.1:c.4038G>A	NP_001338763.1:p.Glu1346=
XM_005271562.5:c.4038G>A	XP_005271619.2:p.Glu1346=
XM_006718843.4:c.4038G>A	XP_006718906.1:p.Glu1346=
XM_006718845.2:c.-7G>A	XP_006718908.1:n.-7G>A
XM_011542840.3:c.4038G>A	XP_011541142.1:p.Glu1346=
XM_011542842.3:c.3873G>A	XP_011541144.1:p.Glu1291=
XM_011542843.2:c.4038G>A	XP_011541145.1:p.Glu1346=
XM_011542844.3:c.2994G>A	XP_011541146.1:p.Glu998=
XM_011542845.2:c.2730G>A	XP_011541147.1:p.Glu910=
XM_017017789.2:c.4038G>A	XP_016873278.1:p.Glu1346=
XM_017017790.2:c.4038G>A	XP_016873279.1:p.Glu1346=
XM_017017791.1:c.4038G>A	XP_016873280.1:p.Glu1346=
XM_017017792.2:c.4038G>A	XP_016873281.1:p.Glu1346=
XR_002957150.1:n.4771G>A
NM_001351834.2:c.4038G>A	NP_001338763.1:p.Glu1346=
NM_000051.4:c.4038G>A MANE Select	NP_000042.3:p.Glu1346=