Canonical Allele Identifier: CA476677465

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1761160
• ClinVar RCV Id: RCV002412378
• MyVariant Identifiers: chr11:g.108203608T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332881T>C , CM000673.2:g.108332881T>C	GRCh38
NC_000011.9:g.108203608T>C , CM000673.1:g.108203608T>C	GRCh37
NC_000011.8:g.107708818T>C	NCBI36
NG_009830.1:g.115050T>C , LRG_135:g.115050T>C
NG_054724.1:g.141952A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7908T>C (ATM)	ENSP00000388058.2:p.Thr2636=
ENST00000713593.1:c.*7379T>C (ATM)	ENSP00000518889.1:n.*7379T>C
ENST00000278616.9:c.7908T>C (ATM)	ENSP00000278616.4:p.Thr2636=
ENST00000525056.2:n.2327T>C (ATM)
ENST00000525537.3:n.1589T>C (ATM)
ENST00000638786.2:n.625+844T>C (ATM)
ENST00000682286.1:n.2665T>C (ATM)
ENST00000682302.1:n.2326T>C (ATM)
ENST00000683174.1:n.9392T>C (ATM)
ENST00000683524.1:n.3132T>C (ATM)
ENST00000684152.1:n.3344-1005T>C (ATM)
ENST00000684180.1:n.382T>C (ATM)
ENST00000684447.1:n.3416T>C (ATM)
ENST00000527805.6:c.*2972T>C (ATM)	ENSP00000435747.2:n.*2972T>C
ENST00000675595.1:c.*3043T>C (ATM)	ENSP00000502563.1:n.*3043T>C
ENST00000675843.1:c.7908T>C (ATM) MANE Select	ENSP00000501606.1:p.Thr2636=
ENST00000278616.8:c.7908T>C (ATM)	ENSP00000278616.4:p.Thr2636=
ENST00000452508.6:c.7908T>C (ATM)	ENSP00000388058.2:p.Thr2636=
ENST00000524755.5:c.300-1314A>G (C11orf65)
ENST00000524792.5:n.4123T>C (ATM)
ENST00000525056.1:n.105T>C (ATM)
ENST00000525729.5:c.641-23810A>G (C11orf65)	ENSP00000433395.1:n.641-23810A>G
ENST00000527531.5:c.*1270-1314A>G (C11orf65)	ENSP00000431706.1:n.*1270-1314A>G
ENST00000533690.5:n.3312T>C (ATM)
ENST00000533979.5:n.120T>C (ATM)
ENST00000615746.4:c.*1270-1314A>G (C11orf65)	ENSP00000483537.1:n.*1270-1314A>G
NM_000051.3:c.7908T>C , LRG_135t1:c.7908T>C (ATM)	NP_000042.3:p.Thr2636=
XM_005271414.3:c.*39-1314A>G (C11orf65)	XP_005271471.1:n.*39-1314A>G
XM_005271415.3:c.805-1314A>G (C11orf65)	XP_005271472.1:n.805-1314A>G
XM_005271561.3:c.7908T>C (ATM)	XP_005271618.2:p.Thr2636=
XM_005271562.3:c.7908T>C (ATM)	XP_005271619.2:p.Thr2636=
XM_006718843.2:c.7908T>C (ATM)	XP_006718906.1:p.Thr2636=
XM_006718845.1:c.3864T>C (ATM)	XP_006718908.1:p.Thr1288=
XM_011542840.1:c.7908T>C (ATM)	XP_011541142.1:p.Thr2636=
XM_011542841.1:c.7908T>C (ATM)	XP_011541143.1:p.Thr2636=
XM_011542842.1:c.7743T>C (ATM)	XP_011541144.1:p.Thr2581=
XM_011542843.1:c.7908T>C (ATM)	XP_011541145.1:p.Thr2636=
XM_011542844.1:c.6864T>C (ATM)	XP_011541146.1:p.Thr2288=
XM_011542845.1:c.6600T>C (ATM)	XP_011541147.1:p.Thr2200=
XM_011542847.1:c.2979T>C (ATM)	XP_011541149.1:p.Thr993=
NM_001330368.1:c.641-23810A>G (C11orf65)	NP_001317297.1:n.641-23810A>G
NM_001351110.1:c.*38+2339A>G (C11orf65)	NP_001338039.1:n.*38+2339A>G
NM_001351834.1:c.7908T>C (ATM)	NP_001338763.1:p.Thr2636=
NR_147053.2:n.2375-1314A>G (C11orf65)
XM_005271414.4:c.*39-1314A>G (C11orf65)	XP_005271471.1:n.*39-1314A>G
XM_005271415.4:c.805-1314A>G (C11orf65)	XP_005271472.1:n.805-1314A>G
XM_005271562.5:c.7908T>C (ATM)	XP_005271619.2:p.Thr2636=
XM_006718843.4:c.7908T>C (ATM)	XP_006718906.1:p.Thr2636=
XM_006718845.2:c.3864T>C (ATM)	XP_006718908.1:p.Thr1288=
XM_011542840.3:c.7908T>C (ATM)	XP_011541142.1:p.Thr2636=
XM_011542842.3:c.7743T>C (ATM)	XP_011541144.1:p.Thr2581=
XM_011542843.2:c.7908T>C (ATM)	XP_011541145.1:p.Thr2636=
XM_011542844.3:c.6864T>C (ATM)	XP_011541146.1:p.Thr2288=
XM_011542845.2:c.6600T>C (ATM)	XP_011541147.1:p.Thr2200=
XM_017017789.2:c.7908T>C (ATM)	XP_016873278.1:p.Thr2636=
XM_017017790.2:c.7908T>C (ATM)	XP_016873279.1:p.Thr2636=
NM_001330368.2:c.641-23810A>G (C11orf65)	NP_001317297.1:n.641-23810A>G
NM_001351110.2:c.*38+2339A>G (C11orf65)	NP_001338039.1:n.*38+2339A>G
NM_001351834.2:c.7908T>C (ATM)	NP_001338763.1:p.Thr2636=
NM_000051.4:c.7908T>C (ATM) MANE Select	NP_000042.3:p.Thr2636=
NR_147053.3:n.2373-1314A>G (C11orf65)