Canonical Allele Identifier: CA476677597

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2136617273
• MyVariant Identifiers: chr11:g.108204683T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108333956T>A , CM000673.2:g.108333956T>A	GRCh38
NC_000011.9:g.108204683T>A , CM000673.1:g.108204683T>A	GRCh37
NC_000011.8:g.107709893T>A	NCBI36
NG_009830.1:g.116125T>A , LRG_135:g.116125T>A
NG_054724.1:g.140877A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7998T>A (ATM)	ENSP00000388058.2:p.Thr2666=
ENST00000713593.1:c.*7469T>A (ATM)	ENSP00000518889.1:n.*7469T>A
ENST00000278616.9:c.7998T>A (ATM)	ENSP00000278616.4:p.Thr2666=
ENST00000525056.2:n.2417T>A (ATM)
ENST00000638786.2:n.696T>A (ATM)
ENST00000682286.1:n.2755T>A (ATM)
ENST00000682302.1:n.2416T>A (ATM)
ENST00000683174.1:n.9482T>A (ATM)
ENST00000683524.1:n.3222T>A (ATM)
ENST00000684152.1:n.3414T>A (ATM)
ENST00000684180.1:n.472T>A (ATM)
ENST00000684447.1:n.4491T>A (ATM)
ENST00000527805.6:c.*3062T>A (ATM)	ENSP00000435747.2:n.*3062T>A
ENST00000675595.1:c.*3133T>A (ATM)	ENSP00000502563.1:n.*3133T>A
ENST00000675843.1:c.7998T>A (ATM) MANE Select	ENSP00000501606.1:p.Thr2666=
ENST00000278616.8:c.7998T>A (ATM)	ENSP00000278616.4:p.Thr2666=
ENST00000452508.6:c.7998T>A (ATM)	ENSP00000388058.2:p.Thr2666=
ENST00000524755.5:c.299+1264A>T (C11orf65)
ENST00000524792.5:n.4213T>A (ATM)
ENST00000525056.1:n.195T>A (ATM)
ENST00000525729.5:c.641-24885A>T (C11orf65)	ENSP00000433395.1:n.641-24885A>T
ENST00000527531.5:c.*1269+1264A>T (C11orf65)	ENSP00000431706.1:n.*1269+1264A>T
ENST00000533979.5:n.210T>A (ATM)
ENST00000615746.4:c.*1269+1264A>T (C11orf65)	ENSP00000483537.1:n.*1269+1264A>T
NM_000051.3:c.7998T>A , LRG_135t1:c.7998T>A (ATM)	NP_000042.3:p.Thr2666=
XM_005271414.3:c.*38+1264A>T (C11orf65)	XP_005271471.1:n.*38+1264A>T
XM_005271415.3:c.804+1264A>T (C11orf65)	XP_005271472.1:n.804+1264A>T
XM_005271561.3:c.7998T>A (ATM)	XP_005271618.2:p.Thr2666=
XM_005271562.3:c.7998T>A (ATM)	XP_005271619.2:p.Thr2666=
XM_006718843.2:c.7998T>A (ATM)	XP_006718906.1:p.Thr2666=
XM_006718845.1:c.3954T>A (ATM)	XP_006718908.1:p.Thr1318=
XM_011542840.1:c.7998T>A (ATM)	XP_011541142.1:p.Thr2666=
XM_011542841.1:c.7998T>A (ATM)	XP_011541143.1:p.Thr2666=
XM_011542842.1:c.7833T>A (ATM)	XP_011541144.1:p.Thr2611=
XM_011542843.1:c.7998T>A (ATM)	XP_011541145.1:p.Thr2666=
XM_011542844.1:c.6954T>A (ATM)	XP_011541146.1:p.Thr2318=
XM_011542845.1:c.6690T>A (ATM)	XP_011541147.1:p.Thr2230=
XM_011542847.1:c.3069T>A (ATM)	XP_011541149.1:p.Thr1023=
NM_001330368.1:c.641-24885A>T (C11orf65)	NP_001317297.1:n.641-24885A>T
NM_001351110.1:c.*38+1264A>T (C11orf65)	NP_001338039.1:n.*38+1264A>T
NM_001351834.1:c.7998T>A (ATM)	NP_001338763.1:p.Thr2666=
NR_147053.2:n.2374+1264A>T (C11orf65)
XM_005271414.4:c.*38+1264A>T (C11orf65)	XP_005271471.1:n.*38+1264A>T
XM_005271415.4:c.804+1264A>T (C11orf65)	XP_005271472.1:n.804+1264A>T
XM_005271562.5:c.7998T>A (ATM)	XP_005271619.2:p.Thr2666=
XM_006718843.4:c.7998T>A (ATM)	XP_006718906.1:p.Thr2666=
XM_006718845.2:c.3954T>A (ATM)	XP_006718908.1:p.Thr1318=
XM_011542840.3:c.7998T>A (ATM)	XP_011541142.1:p.Thr2666=
XM_011542842.3:c.7833T>A (ATM)	XP_011541144.1:p.Thr2611=
XM_011542843.2:c.7998T>A (ATM)	XP_011541145.1:p.Thr2666=
XM_011542844.3:c.6954T>A (ATM)	XP_011541146.1:p.Thr2318=
XM_011542845.2:c.6690T>A (ATM)	XP_011541147.1:p.Thr2230=
XM_017017789.2:c.7998T>A (ATM)	XP_016873278.1:p.Thr2666=
XM_017017790.2:c.7998T>A (ATM)	XP_016873279.1:p.Thr2666=
NM_001330368.2:c.641-24885A>T (C11orf65)	NP_001317297.1:n.641-24885A>T
NM_001351110.2:c.*38+1264A>T (C11orf65)	NP_001338039.1:n.*38+1264A>T
NM_001351834.2:c.7998T>A (ATM)	NP_001338763.1:p.Thr2666=
NM_000051.4:c.7998T>A (ATM) MANE Select	NP_000042.3:p.Thr2666=
NR_147053.3:n.2372+1264A>T (C11orf65)