Canonical Allele Identifier: CA382560858

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs876658933
• MyVariant Identifiers: chr11:g.108202277T>A (hg19) ; chr11:g.108331550T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7622T>A (ATM)	ENSP00000388058.2:p.Leu2541His
ENST00000713593.1:c.*7093T>A (ATM)	ENSP00000518889.1:n.*7093T>A
ENST00000278616.9:c.7622T>A (ATM)	ENSP00000278616.4:p.Leu2541His
ENST00000525056.2:n.2041T>A (ATM)
ENST00000525537.3:n.579T>A (ATM)
ENST00000638786.2:n.459T>A (ATM)
ENST00000682286.1:n.2379T>A (ATM)
ENST00000682302.1:n.2040T>A (ATM)
ENST00000683174.1:n.9106T>A (ATM)
ENST00000683524.1:n.2846T>A (ATM)
ENST00000684152.1:n.3336T>A (ATM)
ENST00000684447.1:n.2085T>A (ATM)
ENST00000527805.6:c.*2686T>A (ATM)	ENSP00000435747.2:n.*2686T>A
ENST00000675595.1:c.*2757T>A (ATM)	ENSP00000502563.1:n.*2757T>A
ENST00000675843.1:c.7622T>A (ATM) MANE Select	ENSP00000501606.1:p.Leu2541His
ENST00000278616.8:c.7622T>A (ATM)	ENSP00000278616.4:p.Leu2541His
ENST00000452508.6:c.7622T>A (ATM)	ENSP00000388058.2:p.Leu2541His
ENST00000524755.5:c.317A>T (C11orf65)
ENST00000524792.5:n.3837T>A (ATM)
ENST00000525729.5:c.641-22479A>T (C11orf65)	ENSP00000433395.1:n.641-22479A>T
ENST00000527531.5:c.*1287A>T (C11orf65)	ENSP00000431706.1:n.*1287A>T
ENST00000533690.5:n.3026T>A (ATM)
ENST00000615746.4:c.*1287A>T (C11orf65)	ENSP00000483537.1:n.*1287A>T
NM_000051.3:c.7622T>A , LRG_135t1:c.7622T>A (ATM)	NP_000042.3:p.Leu2541His
XM_005271414.3:c.*56A>T (C11orf65)	XP_005271471.1:n.*56A>T
XM_005271415.3:c.822A>T (C11orf65)	XP_005271472.1:p.Ter274Cys
XM_005271561.3:c.7622T>A (ATM)	XP_005271618.2:p.Leu2541His
XM_005271562.3:c.7622T>A (ATM)	XP_005271619.2:p.Leu2541His
XM_006718843.2:c.7622T>A (ATM)	XP_006718906.1:p.Leu2541His
XM_006718845.1:c.3578T>A (ATM)	XP_006718908.1:p.Leu1193His
XM_011542840.1:c.7622T>A (ATM)	XP_011541142.1:p.Leu2541His
XM_011542841.1:c.7622T>A (ATM)	XP_011541143.1:p.Leu2541His
XM_011542842.1:c.7457T>A (ATM)	XP_011541144.1:p.Leu2486His
XM_011542843.1:c.7622T>A (ATM)	XP_011541145.1:p.Leu2541His
XM_011542844.1:c.6578T>A (ATM)	XP_011541146.1:p.Leu2193His
XM_011542845.1:c.6314T>A (ATM)	XP_011541147.1:p.Leu2105His
XM_011542847.1:c.2693T>A (ATM)	XP_011541149.1:p.Leu898His
NM_001330368.1:c.641-22479A>T (C11orf65)	NP_001317297.1:n.641-22479A>T
NM_001351110.1:c.*38+3670A>T (C11orf65)	NP_001338039.1:n.*38+3670A>T
NM_001351834.1:c.7622T>A (ATM)	NP_001338763.1:p.Leu2541His
NR_147053.2:n.2392A>T (C11orf65)
XM_005271414.4:c.*56A>T (C11orf65)	XP_005271471.1:n.*56A>T
XM_005271415.4:c.822A>T (C11orf65)	XP_005271472.1:p.Ter274Cys
XM_005271562.5:c.7622T>A (ATM)	XP_005271619.2:p.Leu2541His
XM_006718843.4:c.7622T>A (ATM)	XP_006718906.1:p.Leu2541His
XM_006718845.2:c.3578T>A (ATM)	XP_006718908.1:p.Leu1193His
XM_011542840.3:c.7622T>A (ATM)	XP_011541142.1:p.Leu2541His
XM_011542842.3:c.7457T>A (ATM)	XP_011541144.1:p.Leu2486His
XM_011542843.2:c.7622T>A (ATM)	XP_011541145.1:p.Leu2541His
XM_011542844.3:c.6578T>A (ATM)	XP_011541146.1:p.Leu2193His
XM_011542845.2:c.6314T>A (ATM)	XP_011541147.1:p.Leu2105His
XM_017017789.2:c.7622T>A (ATM)	XP_016873278.1:p.Leu2541His
XM_017017790.2:c.7622T>A (ATM)	XP_016873279.1:p.Leu2541His
NM_001330368.2:c.641-22479A>T (C11orf65)	NP_001317297.1:n.641-22479A>T
NM_001351110.2:c.*38+3670A>T (C11orf65)	NP_001338039.1:n.*38+3670A>T
NM_001351834.2:c.7622T>A (ATM)	NP_001338763.1:p.Leu2541His
NM_000051.4:c.7622T>A (ATM) MANE Select	NP_000042.3:p.Leu2541His
NR_147053.3:n.2390A>T (C11orf65)