Canonical Allele Identifier: CA382559747

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1518401
• ClinVar RCV Id: RCV002021718 ; RCV002386929
• dbSNP Id: rs1360453074
• MyVariant Identifiers: chr11:g.108199920A>G (hg19) ; chr11:g.108329193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329193A>G , CM000673.2:g.108329193A>G	GRCh38
NC_000011.9:g.108199920A>G , CM000673.1:g.108199920A>G	GRCh37
NC_000011.8:g.107705130A>G	NCBI36
NG_009830.1:g.111362A>G , LRG_135:g.111362A>G
NG_054724.1:g.145640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7262A>G (ATM)	ENSP00000388058.2:p.Lys2421Arg
ENST00000713593.1:c.*6733A>G (ATM)	ENSP00000518889.1:n.*6733A>G
ENST00000278616.9:c.7262A>G (ATM)	ENSP00000278616.4:p.Lys2421Arg
ENST00000525056.2:n.1681A>G (ATM)
ENST00000525537.3:n.219A>G (ATM)
ENST00000638786.2:n.99A>G (ATM)
ENST00000682286.1:n.2019A>G (ATM)
ENST00000682302.1:n.1680A>G (ATM)
ENST00000683174.1:n.8746A>G (ATM)
ENST00000683524.1:n.2486A>G (ATM)
ENST00000684152.1:n.2976A>G (ATM)
ENST00000684447.1:n.1725A>G (ATM)
ENST00000527805.6:c.*2326A>G (ATM)	ENSP00000435747.2:n.*2326A>G
ENST00000675595.1:c.*2397A>G (ATM)	ENSP00000502563.1:n.*2397A>G
ENST00000675843.1:c.7262A>G (ATM) MANE Select	ENSP00000501606.1:p.Lys2421Arg
ENST00000278616.8:c.7262A>G (ATM)	ENSP00000278616.4:p.Lys2421Arg
ENST00000452508.6:c.7262A>G (ATM)	ENSP00000388058.2:p.Lys2421Arg
ENST00000524792.5:n.3477A>G (ATM)
ENST00000525537.2:n.538A>G (ATM)
ENST00000525729.5:c.641-20122T>C (C11orf65)	ENSP00000433395.1:n.641-20122T>C
ENST00000527389.2:n.287A>G (ATM)
ENST00000533690.5:n.2666A>G (ATM)
NM_000051.3:c.7262A>G , LRG_135t1:c.7262A>G (ATM)	NP_000042.3:p.Lys2421Arg
XM_005271561.3:c.7262A>G (ATM)	XP_005271618.2:p.Lys2421Arg
XM_005271562.3:c.7262A>G (ATM)	XP_005271619.2:p.Lys2421Arg
XM_006718843.2:c.7262A>G (ATM)	XP_006718906.1:p.Lys2421Arg
XM_006718845.1:c.3218A>G (ATM)	XP_006718908.1:p.Lys1073Arg
XM_011542840.1:c.7262A>G (ATM)	XP_011541142.1:p.Lys2421Arg
XM_011542841.1:c.7262A>G (ATM)	XP_011541143.1:p.Lys2421Arg
XM_011542842.1:c.7097A>G (ATM)	XP_011541144.1:p.Lys2366Arg
XM_011542843.1:c.7262A>G (ATM)	XP_011541145.1:p.Lys2421Arg
XM_011542844.1:c.6218A>G (ATM)	XP_011541146.1:p.Lys2073Arg
XM_011542845.1:c.5954A>G (ATM)	XP_011541147.1:p.Lys1985Arg
XM_011542847.1:c.2333A>G (ATM)	XP_011541149.1:p.Lys778Arg
NM_001330368.1:c.641-20122T>C (C11orf65)	NP_001317297.1:n.641-20122T>C
NM_001351110.1:c.*38+6027T>C (C11orf65)	NP_001338039.1:n.*38+6027T>C
NM_001351834.1:c.7262A>G (ATM)	NP_001338763.1:p.Lys2421Arg
XM_005271562.5:c.7262A>G (ATM)	XP_005271619.2:p.Lys2421Arg
XM_006718843.4:c.7262A>G (ATM)	XP_006718906.1:p.Lys2421Arg
XM_006718845.2:c.3218A>G (ATM)	XP_006718908.1:p.Lys1073Arg
XM_011542840.3:c.7262A>G (ATM)	XP_011541142.1:p.Lys2421Arg
XM_011542842.3:c.7097A>G (ATM)	XP_011541144.1:p.Lys2366Arg
XM_011542843.2:c.7262A>G (ATM)	XP_011541145.1:p.Lys2421Arg
XM_011542844.3:c.6218A>G (ATM)	XP_011541146.1:p.Lys2073Arg
XM_011542845.2:c.5954A>G (ATM)	XP_011541147.1:p.Lys1985Arg
XM_017017789.2:c.7262A>G (ATM)	XP_016873278.1:p.Lys2421Arg
XM_017017790.2:c.7262A>G (ATM)	XP_016873279.1:p.Lys2421Arg
NM_001330368.2:c.641-20122T>C (C11orf65)	NP_001317297.1:n.641-20122T>C
NM_001351110.2:c.*38+6027T>C (C11orf65)	NP_001338039.1:n.*38+6027T>C
NM_001351834.2:c.7262A>G (ATM)	NP_001338763.1:p.Lys2421Arg
NM_000051.4:c.7262A>G (ATM) MANE Select	NP_000042.3:p.Lys2421Arg