Canonical Allele Identifier: CA167716

Gene: ATM

Linked Data

• ClinVar Variation Id: 142188
• ClinVar RCV Id: RCV000131174 ; RCV000411522 ; RCV001560591 ; RCV003467163
• dbSNP Id: rs373226793
• MyVariant Identifiers: chr11:g.108160462T>G (hg19) ; chr11:g.108289735T>G (hg38)
• PubMed: PMID:24763289

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289735T>G , CM000673.2:g.108289735T>G	GRCh38
NC_000011.9:g.108160462T>G , CM000673.1:g.108160462T>G	GRCh37
NC_000011.8:g.107665672T>G	NCBI36
NG_009830.1:g.71904T>G , LRG_135:g.71904T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4370T>G	ENSP00000388058.2:p.Leu1457Ter
ENST00000713593.1:c.*3841T>G	ENSP00000518889.1:n.*3841T>G
ENST00000278616.9:c.4370T>G	ENSP00000278616.4:p.Leu1457Ter
ENST00000533733.6:n.1633T>G
ENST00000683174.1:n.4520T>G
ENST00000527805.6:c.4370T>G	ENSP00000435747.2:p.Leu1457Ter
ENST00000675595.1:c.4205T>G	ENSP00000502563.1:p.Leu1402Ter
ENST00000675843.1:c.4370T>G MANE Select	ENSP00000501606.1:p.Leu1457Ter
ENST00000278616.8:c.4370T>G	ENSP00000278616.4:p.Leu1457Ter
ENST00000452508.6:c.4370T>G	ENSP00000388058.2:p.Leu1457Ter
ENST00000524792.5:n.585T>G
ENST00000531525.2:c.377T>G	ENSP00000434327.2:p.Leu126Ter
ENST00000533733.5:n.799T>G
NM_000051.3:c.4370T>G , LRG_135t1:c.4370T>G	NP_000042.3:p.Leu1457Ter
XM_005271561.3:c.4370T>G	XP_005271618.2:p.Leu1457Ter
XM_005271562.3:c.4370T>G	XP_005271619.2:p.Leu1457Ter
XM_006718843.2:c.4370T>G	XP_006718906.1:p.Leu1457Ter
XM_006718845.1:c.326T>G	XP_006718908.1:p.Leu109Ter
XM_011542840.1:c.4370T>G	XP_011541142.1:p.Leu1457Ter
XM_011542841.1:c.4370T>G	XP_011541143.1:p.Leu1457Ter
XM_011542842.1:c.4205T>G	XP_011541144.1:p.Leu1402Ter
XM_011542843.1:c.4370T>G	XP_011541145.1:p.Leu1457Ter
XM_011542844.1:c.3326T>G	XP_011541146.1:p.Leu1109Ter
XM_011542845.1:c.3062T>G	XP_011541147.1:p.Leu1021Ter
XM_011542846.1:c.4370T>G	XP_011541148.1:p.Leu1457Ter
NM_001351834.1:c.4370T>G	NP_001338763.1:p.Leu1457Ter
XM_005271562.5:c.4370T>G	XP_005271619.2:p.Leu1457Ter
XM_006718843.4:c.4370T>G	XP_006718906.1:p.Leu1457Ter
XM_006718845.2:c.326T>G	XP_006718908.1:p.Leu109Ter
XM_011542840.3:c.4370T>G	XP_011541142.1:p.Leu1457Ter
XM_011542842.3:c.4205T>G	XP_011541144.1:p.Leu1402Ter
XM_011542843.2:c.4370T>G	XP_011541145.1:p.Leu1457Ter
XM_011542844.3:c.3326T>G	XP_011541146.1:p.Leu1109Ter
XM_011542845.2:c.3062T>G	XP_011541147.1:p.Leu1021Ter
XM_017017789.2:c.4370T>G	XP_016873278.1:p.Leu1457Ter
XM_017017790.2:c.4370T>G	XP_016873279.1:p.Leu1457Ter
XM_017017791.1:c.4370T>G	XP_016873280.1:p.Leu1457Ter
XM_017017792.2:c.4370T>G	XP_016873281.1:p.Leu1457Ter
XR_002957150.1:n.5103T>G
NM_001351834.2:c.4370T>G	NP_001338763.1:p.Leu1457Ter
NM_000051.4:c.4370T>G MANE Select	NP_000042.3:p.Leu1457Ter