Canonical Allele Identifier: CA382536671

Gene: ATM

Linked Data

• ClinVar Variation Id: 1719973
• ClinVar RCV Id: RCV002304117
• MyVariant Identifiers: chr11:g.108124590G>C (hg19) ; chr11:g.108253863G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253863G>C , CM000673.2:g.108253863G>C	GRCh38
NC_000011.9:g.108124590G>C , CM000673.1:g.108124590G>C	GRCh37
NC_000011.8:g.107629800G>C	NCBI36
NG_009830.1:g.36032G>C , LRG_135:g.36032G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1948G>C	ENSP00000388058.2:p.Glu650Gln
ENST00000713593.1:c.*1419G>C	ENSP00000518889.1:n.*1419G>C
ENST00000278616.9:c.1948G>C	ENSP00000278616.4:p.Glu650Gln
ENST00000682516.1:n.2082G>C
ENST00000683174.1:n.2098G>C
ENST00000683605.1:n.1443G>C
ENST00000684037.1:c.*883G>C	ENSP00000508245.1:n.*883G>C
ENST00000684061.1:n.2082G>C
ENST00000527805.6:c.1948G>C	ENSP00000435747.2:p.Glu650Gln
ENST00000675595.1:c.1783G>C	ENSP00000502563.1:p.Glu595Gln
ENST00000675843.1:c.1948G>C MANE Select	ENSP00000501606.1:p.Glu650Gln
ENST00000278616.8:c.1948G>C	ENSP00000278616.4:p.Glu650Gln
ENST00000452508.6:c.1948G>C	ENSP00000388058.2:p.Glu650Gln
ENST00000525012.5:n.125G>C
ENST00000527805.5:c.1948G>C	ENSP00000435747.1:p.Glu650Gln
ENST00000533526.1:n.101G>C
NM_000051.3:c.1948G>C , LRG_135t1:c.1948G>C	NP_000042.3:p.Glu650Gln
XM_005271561.3:c.1948G>C	XP_005271618.2:p.Glu650Gln
XM_005271562.3:c.1948G>C	XP_005271619.2:p.Glu650Gln
XM_006718843.2:c.1948G>C	XP_006718906.1:p.Glu650Gln
XM_011542840.1:c.1948G>C	XP_011541142.1:p.Glu650Gln
XM_011542841.1:c.1948G>C	XP_011541143.1:p.Glu650Gln
XM_011542842.1:c.1783G>C	XP_011541144.1:p.Glu595Gln
XM_011542843.1:c.1948G>C	XP_011541145.1:p.Glu650Gln
XM_011542844.1:c.904G>C	XP_011541146.1:p.Glu302Gln
XM_011542845.1:c.640G>C	XP_011541147.1:p.Glu214Gln
XM_011542846.1:c.1948G>C	XP_011541148.1:p.Glu650Gln
NM_001351834.1:c.1948G>C	NP_001338763.1:p.Glu650Gln
XM_005271562.5:c.1948G>C	XP_005271619.2:p.Glu650Gln
XM_006718843.4:c.1948G>C	XP_006718906.1:p.Glu650Gln
XM_011542840.3:c.1948G>C	XP_011541142.1:p.Glu650Gln
XM_011542842.3:c.1783G>C	XP_011541144.1:p.Glu595Gln
XM_011542843.2:c.1948G>C	XP_011541145.1:p.Glu650Gln
XM_011542844.3:c.904G>C	XP_011541146.1:p.Glu302Gln
XM_011542845.2:c.640G>C	XP_011541147.1:p.Glu214Gln
XM_017017789.2:c.1948G>C	XP_016873278.1:p.Glu650Gln
XM_017017790.2:c.1948G>C	XP_016873279.1:p.Glu650Gln
XM_017017791.1:c.1948G>C	XP_016873280.1:p.Glu650Gln
XM_017017792.2:c.1948G>C	XP_016873281.1:p.Glu650Gln
XR_002957150.1:n.2681G>C
NM_001351834.2:c.1948G>C	NP_001338763.1:p.Glu650Gln
NM_000051.4:c.1948G>C MANE Select	NP_000042.3:p.Glu650Gln