Canonical Allele Identifier: CA382548049

Gene: ATM C11orf65

Linked Data

• MyVariant Identifiers: chr11:g.108179703A>T (hg19) ; chr11:g.108308976A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108308976A>T , CM000673.2:g.108308976A>T	GRCh38
NC_000011.9:g.108179703A>T , CM000673.1:g.108179703A>T	GRCh37
NC_000011.8:g.107684913A>T	NCBI36
NG_009830.1:g.91145A>T , LRG_135:g.91145A>T
NG_054724.1:g.165857T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5762+992A>T (ATM)	ENSP00000388058.2:n.5762+992A>T
ENST00000713593.1:c.*5233+992A>T (ATM)	ENSP00000518889.1:n.*5233+992A>T
ENST00000278616.9:c.5762+992A>T (ATM)	ENSP00000278616.4:n.5762+992A>T
ENST00000525056.2:n.181+992A>T (ATM)
ENST00000682286.1:n.519+992A>T (ATM)
ENST00000682302.1:n.180+992A>T (ATM)
ENST00000683174.1:n.7246+992A>T (ATM)
ENST00000683524.1:n.986+992A>T (ATM)
ENST00000684152.1:n.1476+992A>T (ATM)
ENST00000527805.6:c.*826+992A>T (ATM)	ENSP00000435747.2:n.*826+992A>T
ENST00000675595.1:c.*826+992A>T (ATM)	ENSP00000502563.1:n.*826+992A>T
ENST00000675843.1:c.5762+992A>T (ATM) MANE Select	ENSP00000501606.1:n.5762+992A>T
ENST00000278616.8:c.5762+992A>T (ATM)	ENSP00000278616.4:n.5762+992A>T
ENST00000452508.6:c.5762+992A>T (ATM)	ENSP00000388058.2:n.5762+992A>T
ENST00000524792.5:n.1977+992A>T (ATM)
ENST00000525729.5:c.736T>A (C11orf65)	ENSP00000433395.1:p.Trp246Arg
ENST00000529588.5:c.187-1184A>T (ATM)
ENST00000532765.1:n.79+906A>T (ATM)
ENST00000533690.5:n.1166+992A>T (ATM)
NM_000051.3:c.5762+992A>T , LRG_135t1:c.5762+992A>T (ATM)	NP_000042.3:n.5762+992A>T
XM_005271561.3:c.5762+992A>T (ATM)	XP_005271618.2:n.5762+992A>T
XM_005271562.3:c.5762+992A>T (ATM)	XP_005271619.2:n.5762+992A>T
XM_006718843.2:c.5762+992A>T (ATM)	XP_006718906.1:n.5762+992A>T
XM_006718845.1:c.1718+992A>T (ATM)	XP_006718908.1:n.1718+992A>T
XM_011542840.1:c.5762+992A>T (ATM)	XP_011541142.1:n.5762+992A>T
XM_011542841.1:c.5762+992A>T (ATM)	XP_011541143.1:n.5762+992A>T
XM_011542842.1:c.5597+992A>T (ATM)	XP_011541144.1:n.5597+992A>T
XM_011542843.1:c.5762+992A>T (ATM)	XP_011541145.1:n.5762+992A>T
XM_011542844.1:c.4718+992A>T (ATM)	XP_011541146.1:n.4718+992A>T
XM_011542845.1:c.4454+992A>T (ATM)	XP_011541147.1:n.4454+992A>T
XM_011542847.1:c.833+992A>T (ATM)	XP_011541149.1:n.833+992A>T
NM_001330368.1:c.736T>A (C11orf65)	NP_001317297.1:p.Trp246Arg
NM_001351110.1:c.*134T>A (C11orf65)	NP_001338039.1:n.*134T>A
NM_001351834.1:c.5762+992A>T (ATM)	NP_001338763.1:n.5762+992A>T
XM_005271562.5:c.5762+992A>T (ATM)	XP_005271619.2:n.5762+992A>T
XM_006718843.4:c.5762+992A>T (ATM)	XP_006718906.1:n.5762+992A>T
XM_006718845.2:c.1718+992A>T (ATM)	XP_006718908.1:n.1718+992A>T
XM_011542840.3:c.5762+992A>T (ATM)	XP_011541142.1:n.5762+992A>T
XM_011542842.3:c.5597+992A>T (ATM)	XP_011541144.1:n.5597+992A>T
XM_011542843.2:c.5762+992A>T (ATM)	XP_011541145.1:n.5762+992A>T
XM_011542844.3:c.4718+992A>T (ATM)	XP_011541146.1:n.4718+992A>T
XM_011542845.2:c.4454+992A>T (ATM)	XP_011541147.1:n.4454+992A>T
XM_017017789.2:c.5762+992A>T (ATM)	XP_016873278.1:n.5762+992A>T
XM_017017790.2:c.5762+992A>T (ATM)	XP_016873279.1:n.5762+992A>T
XM_017017791.1:c.5762+992A>T (ATM)	XP_016873280.1:n.5762+992A>T
XR_002957150.1:n.6362+992A>T (ATM)
NM_001330368.2:c.736T>A (C11orf65)	NP_001317297.1:p.Trp246Arg
NM_001351110.2:c.*134T>A (C11orf65)	NP_001338039.1:n.*134T>A
NM_001351834.2:c.5762+992A>T (ATM)	NP_001338763.1:n.5762+992A>T
NM_000051.4:c.5762+992A>T (ATM) MANE Select	NP_000042.3:n.5762+992A>T