Canonical Allele Identifier: CA382527799

Gene: ATM

Linked Data

• ClinVar Variation Id: 1737311
• ClinVar RCV Id: RCV002321230
• dbSNP Id: rs2135736190
• MyVariant Identifiers: chr11:g.108158377G>C (hg19) ; chr11:g.108287650G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287650G>C , CM000673.2:g.108287650G>C	GRCh38
NC_000011.9:g.108158377G>C , CM000673.1:g.108158377G>C	GRCh37
NC_000011.8:g.107663587G>C	NCBI36
NG_009830.1:g.69819G>C , LRG_135:g.69819G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4044G>C	ENSP00000388058.2:p.Leu1348Phe
ENST00000713593.1:c.*3515G>C	ENSP00000518889.1:n.*3515G>C
ENST00000278616.9:c.4044G>C	ENSP00000278616.4:p.Leu1348Phe
ENST00000533733.6:n.1307G>C
ENST00000683174.1:n.4194G>C
ENST00000527805.6:c.4044G>C	ENSP00000435747.2:p.Leu1348Phe
ENST00000675595.1:c.3879G>C	ENSP00000502563.1:p.Leu1293Phe
ENST00000675843.1:c.4044G>C MANE Select	ENSP00000501606.1:p.Leu1348Phe
ENST00000278616.8:c.4044G>C	ENSP00000278616.4:p.Leu1348Phe
ENST00000452508.6:c.4044G>C	ENSP00000388058.2:p.Leu1348Phe
ENST00000524792.5:n.259G>C
ENST00000527805.5:c.4044G>C	ENSP00000435747.1:p.Leu1348Phe
ENST00000531525.2:c.51G>C	ENSP00000434327.2:p.Leu17Phe
ENST00000533733.5:n.473G>C
NM_000051.3:c.4044G>C , LRG_135t1:c.4044G>C	NP_000042.3:p.Leu1348Phe
XM_005271561.3:c.4044G>C	XP_005271618.2:p.Leu1348Phe
XM_005271562.3:c.4044G>C	XP_005271619.2:p.Leu1348Phe
XM_006718843.2:c.4044G>C	XP_006718906.1:p.Leu1348Phe
XM_006718845.1:c.-1G>C	XP_006718908.1:n.-1G>C
XM_011542840.1:c.4044G>C	XP_011541142.1:p.Leu1348Phe
XM_011542841.1:c.4044G>C	XP_011541143.1:p.Leu1348Phe
XM_011542842.1:c.3879G>C	XP_011541144.1:p.Leu1293Phe
XM_011542843.1:c.4044G>C	XP_011541145.1:p.Leu1348Phe
XM_011542844.1:c.3000G>C	XP_011541146.1:p.Leu1000Phe
XM_011542845.1:c.2736G>C	XP_011541147.1:p.Leu912Phe
XM_011542846.1:c.4044G>C	XP_011541148.1:p.Leu1348Phe
NM_001351834.1:c.4044G>C	NP_001338763.1:p.Leu1348Phe
XM_005271562.5:c.4044G>C	XP_005271619.2:p.Leu1348Phe
XM_006718843.4:c.4044G>C	XP_006718906.1:p.Leu1348Phe
XM_006718845.2:c.-1G>C	XP_006718908.1:n.-1G>C
XM_011542840.3:c.4044G>C	XP_011541142.1:p.Leu1348Phe
XM_011542842.3:c.3879G>C	XP_011541144.1:p.Leu1293Phe
XM_011542843.2:c.4044G>C	XP_011541145.1:p.Leu1348Phe
XM_011542844.3:c.3000G>C	XP_011541146.1:p.Leu1000Phe
XM_011542845.2:c.2736G>C	XP_011541147.1:p.Leu912Phe
XM_017017789.2:c.4044G>C	XP_016873278.1:p.Leu1348Phe
XM_017017790.2:c.4044G>C	XP_016873279.1:p.Leu1348Phe
XM_017017791.1:c.4044G>C	XP_016873280.1:p.Leu1348Phe
XM_017017792.2:c.4044G>C	XP_016873281.1:p.Leu1348Phe
XR_002957150.1:n.4777G>C
NM_001351834.2:c.4044G>C	NP_001338763.1:p.Leu1348Phe
NM_000051.4:c.4044G>C MANE Select	NP_000042.3:p.Leu1348Phe