Canonical Allele Identifier: CA476672718

Gene: ATM C11orf65

Linked Data

• MyVariant Identifiers: chr11:g.108214054A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343327A>C , CM000673.2:g.108343327A>C	GRCh38
NC_000011.9:g.108214054A>C , CM000673.1:g.108214054A>C	GRCh37
NC_000011.8:g.107719264A>C	NCBI36
NG_009830.1:g.125496A>C , LRG_135:g.125496A>C
NG_054724.1:g.131506T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8374A>C (ATM)	ENSP00000388058.2:p.Arg2792=
ENST00000713593.1:c.*7845A>C (ATM)	ENSP00000518889.1:n.*7845A>C
ENST00000278616.9:c.8374A>C (ATM)	ENSP00000278616.4:p.Arg2792=
ENST00000638786.2:n.1072A>C (ATM)
ENST00000682286.1:n.3131A>C (ATM)
ENST00000682302.1:n.2792A>C (ATM)
ENST00000683174.1:n.9858A>C (ATM)
ENST00000683524.1:n.3598A>C (ATM)
ENST00000684152.1:n.3790A>C (ATM)
ENST00000684180.1:n.848A>C (ATM)
ENST00000684447.1:n.4867A>C (ATM)
ENST00000527805.6:c.*3438A>C (ATM)	ENSP00000435747.2:n.*3438A>C
ENST00000675595.1:c.*3509A>C (ATM)	ENSP00000502563.1:n.*3509A>C
ENST00000675843.1:c.8374A>C (ATM) MANE Select	ENSP00000501606.1:p.Arg2792=
ENST00000278616.8:c.8374A>C (ATM)	ENSP00000278616.4:p.Arg2792=
ENST00000452508.6:c.8374A>C (ATM)	ENSP00000388058.2:p.Arg2792=
ENST00000524755.5:c.227-8035T>G (C11orf65)
ENST00000524792.5:n.4589A>C (ATM)
ENST00000525729.5:c.641-34256T>G (C11orf65)	ENSP00000433395.1:n.641-34256T>G
ENST00000526725.1:n.272-2963T>G (C11orf65)
ENST00000527531.5:c.*1197-8035T>G (C11orf65)	ENSP00000431706.1:n.*1197-8035T>G
ENST00000615746.4:c.*1197-8035T>G (C11orf65)	ENSP00000483537.1:n.*1197-8035T>G
NM_000051.3:c.8374A>C , LRG_135t1:c.8374A>C (ATM)	NP_000042.3:p.Arg2792=
XM_005271414.3:c.788-8035T>G (C11orf65)	XP_005271471.1:n.788-8035T>G
XM_005271415.3:c.732-8035T>G (C11orf65)	XP_005271472.1:n.732-8035T>G
XM_005271561.3:c.8374A>C (ATM)	XP_005271618.2:p.Arg2792=
XM_005271562.3:c.8374A>C (ATM)	XP_005271619.2:p.Arg2792=
XM_006718843.2:c.8374A>C (ATM)	XP_006718906.1:p.Arg2792=
XM_006718845.1:c.4330A>C (ATM)	XP_006718908.1:p.Arg1444=
XM_011542640.1:c.788-2963T>G (C11orf65)	XP_011540942.1:n.788-2963T>G
XM_011542643.1:c.732-2963T>G (C11orf65)	XP_011540945.1:n.732-2963T>G
XM_011542840.1:c.8374A>C (ATM)	XP_011541142.1:p.Arg2792=
XM_011542841.1:c.8374A>C (ATM)	XP_011541143.1:p.Arg2792=
XM_011542842.1:c.8209A>C (ATM)	XP_011541144.1:p.Arg2737=
XM_011542843.1:c.8374A>C (ATM)	XP_011541145.1:p.Arg2792=
XM_011542844.1:c.7330A>C (ATM)	XP_011541146.1:p.Arg2444=
XM_011542845.1:c.7066A>C (ATM)	XP_011541147.1:p.Arg2356=
XM_011542847.1:c.3445A>C (ATM)	XP_011541149.1:p.Arg1149=
NM_001330368.1:c.641-34256T>G (C11orf65)	NP_001317297.1:n.641-34256T>G
NM_001351110.1:c.695-8035T>G (C11orf65)	NP_001338039.1:n.695-8035T>G
NM_001351834.1:c.8374A>C (ATM)	NP_001338763.1:p.Arg2792=
NR_147053.2:n.2302-8035T>G (C11orf65)
XM_005271414.4:c.788-8035T>G (C11orf65)	XP_005271471.1:n.788-8035T>G
XM_005271415.4:c.732-8035T>G (C11orf65)	XP_005271472.1:n.732-8035T>G
XM_005271562.5:c.8374A>C (ATM)	XP_005271619.2:p.Arg2792=
XM_006718843.4:c.8374A>C (ATM)	XP_006718906.1:p.Arg2792=
XM_006718845.2:c.4330A>C (ATM)	XP_006718908.1:p.Arg1444=
XM_011542640.2:c.788-2963T>G (C11orf65)	XP_011540942.1:n.788-2963T>G
XM_011542643.2:c.732-2963T>G (C11orf65)	XP_011540945.1:n.732-2963T>G
XM_011542840.3:c.8374A>C (ATM)	XP_011541142.1:p.Arg2792=
XM_011542842.3:c.8209A>C (ATM)	XP_011541144.1:p.Arg2737=
XM_011542843.2:c.8374A>C (ATM)	XP_011541145.1:p.Arg2792=
XM_011542844.3:c.7330A>C (ATM)	XP_011541146.1:p.Arg2444=
XM_011542845.2:c.7066A>C (ATM)	XP_011541147.1:p.Arg2356=
XM_017017247.1:c.904-2963T>G (C11orf65)	XP_016872736.1:n.904-2963T>G
XM_017017789.2:c.8374A>C (ATM)	XP_016873278.1:p.Arg2792=
XM_017017790.2:c.8374A>C (ATM)	XP_016873279.1:p.Arg2792=
NM_001330368.2:c.641-34256T>G (C11orf65)	NP_001317297.1:n.641-34256T>G
NM_001351110.2:c.695-8035T>G (C11orf65)	NP_001338039.1:n.695-8035T>G
NM_001351834.2:c.8374A>C (ATM)	NP_001338763.1:p.Arg2792=
NM_000051.4:c.8374A>C (ATM) MANE Select	NP_000042.3:p.Arg2792=
NR_147053.3:n.2300-8035T>G (C11orf65)