Canonical Allele Identifier: CA10579264

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 231059
• ClinVar RCV Id: RCV000222572 ; RCV001200383 ; RCV003500513
• dbSNP Id: rs876658933
• gnomAD v4: 11-108331550-T-G
• MyVariant Identifiers: chr11:g.108202277T>G (hg19) ; chr11:g.108331550T>G (hg38)
• PubMed: PMID:15054841 ; PMID:16864838 ; PMID:19535770 ; PMID:25040471

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331550T>G , CM000673.2:g.108331550T>G	GRCh38
NC_000011.9:g.108202277T>G , CM000673.1:g.108202277T>G	GRCh37
NC_000011.8:g.107707487T>G	NCBI36
NG_009830.1:g.113719T>G , LRG_135:g.113719T>G
NG_054724.1:g.143283A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7622T>G (ATM)	ENSP00000388058.2:p.Leu2541Arg
ENST00000713593.1:c.*7093T>G (ATM)	ENSP00000518889.1:n.*7093T>G
ENST00000278616.9:c.7622T>G (ATM)	ENSP00000278616.4:p.Leu2541Arg
ENST00000525056.2:n.2041T>G (ATM)
ENST00000525537.3:n.579T>G (ATM)
ENST00000638786.2:n.459T>G (ATM)
ENST00000682286.1:n.2379T>G (ATM)
ENST00000682302.1:n.2040T>G (ATM)
ENST00000683174.1:n.9106T>G (ATM)
ENST00000683524.1:n.2846T>G (ATM)
ENST00000684152.1:n.3336T>G (ATM)
ENST00000684447.1:n.2085T>G (ATM)
ENST00000527805.6:c.*2686T>G (ATM)	ENSP00000435747.2:n.*2686T>G
ENST00000675595.1:c.*2757T>G (ATM)	ENSP00000502563.1:n.*2757T>G
ENST00000675843.1:c.7622T>G (ATM) MANE Select	ENSP00000501606.1:p.Leu2541Arg
ENST00000278616.8:c.7622T>G (ATM)	ENSP00000278616.4:p.Leu2541Arg
ENST00000452508.6:c.7622T>G (ATM)	ENSP00000388058.2:p.Leu2541Arg
ENST00000524755.5:c.317A>C (C11orf65)
ENST00000524792.5:n.3837T>G (ATM)
ENST00000525729.5:c.641-22479A>C (C11orf65)	ENSP00000433395.1:n.641-22479A>C
ENST00000527531.5:c.*1287A>C (C11orf65)	ENSP00000431706.1:n.*1287A>C
ENST00000533690.5:n.3026T>G (ATM)
ENST00000615746.4:c.*1287A>C (C11orf65)	ENSP00000483537.1:n.*1287A>C
NM_000051.3:c.7622T>G , LRG_135t1:c.7622T>G (ATM)	NP_000042.3:p.Leu2541Arg
XM_005271414.3:c.*56A>C (C11orf65)	XP_005271471.1:n.*56A>C
XM_005271415.3:c.822A>C (C11orf65)	XP_005271472.1:p.Ter274Cys
XM_005271561.3:c.7622T>G (ATM)	XP_005271618.2:p.Leu2541Arg
XM_005271562.3:c.7622T>G (ATM)	XP_005271619.2:p.Leu2541Arg
XM_006718843.2:c.7622T>G (ATM)	XP_006718906.1:p.Leu2541Arg
XM_006718845.1:c.3578T>G (ATM)	XP_006718908.1:p.Leu1193Arg
XM_011542840.1:c.7622T>G (ATM)	XP_011541142.1:p.Leu2541Arg
XM_011542841.1:c.7622T>G (ATM)	XP_011541143.1:p.Leu2541Arg
XM_011542842.1:c.7457T>G (ATM)	XP_011541144.1:p.Leu2486Arg
XM_011542843.1:c.7622T>G (ATM)	XP_011541145.1:p.Leu2541Arg
XM_011542844.1:c.6578T>G (ATM)	XP_011541146.1:p.Leu2193Arg
XM_011542845.1:c.6314T>G (ATM)	XP_011541147.1:p.Leu2105Arg
XM_011542847.1:c.2693T>G (ATM)	XP_011541149.1:p.Leu898Arg
NM_001330368.1:c.641-22479A>C (C11orf65)	NP_001317297.1:n.641-22479A>C
NM_001351110.1:c.*38+3670A>C (C11orf65)	NP_001338039.1:n.*38+3670A>C
NM_001351834.1:c.7622T>G (ATM)	NP_001338763.1:p.Leu2541Arg
NR_147053.2:n.2392A>C (C11orf65)
XM_005271414.4:c.*56A>C (C11orf65)	XP_005271471.1:n.*56A>C
XM_005271415.4:c.822A>C (C11orf65)	XP_005271472.1:p.Ter274Cys
XM_005271562.5:c.7622T>G (ATM)	XP_005271619.2:p.Leu2541Arg
XM_006718843.4:c.7622T>G (ATM)	XP_006718906.1:p.Leu2541Arg
XM_006718845.2:c.3578T>G (ATM)	XP_006718908.1:p.Leu1193Arg
XM_011542840.3:c.7622T>G (ATM)	XP_011541142.1:p.Leu2541Arg
XM_011542842.3:c.7457T>G (ATM)	XP_011541144.1:p.Leu2486Arg
XM_011542843.2:c.7622T>G (ATM)	XP_011541145.1:p.Leu2541Arg
XM_011542844.3:c.6578T>G (ATM)	XP_011541146.1:p.Leu2193Arg
XM_011542845.2:c.6314T>G (ATM)	XP_011541147.1:p.Leu2105Arg
XM_017017789.2:c.7622T>G (ATM)	XP_016873278.1:p.Leu2541Arg
XM_017017790.2:c.7622T>G (ATM)	XP_016873279.1:p.Leu2541Arg
NM_001330368.2:c.641-22479A>C (C11orf65)	NP_001317297.1:n.641-22479A>C
NM_001351110.2:c.*38+3670A>C (C11orf65)	NP_001338039.1:n.*38+3670A>C
NM_001351834.2:c.7622T>G (ATM)	NP_001338763.1:p.Leu2541Arg
NM_000051.4:c.7622T>G (ATM) MANE Select	NP_000042.3:p.Leu2541Arg
NR_147053.3:n.2390A>C (C11orf65)