Canonical Allele Identifier: CA382561414

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2679762
• ClinVar RCV Id: RCV003466667
• dbSNP Id: rs2136568493
• MyVariant Identifiers: chr11:g.108203572T>A (hg19) ; chr11:g.108332845T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332845T>A , CM000673.2:g.108332845T>A	GRCh38
NC_000011.9:g.108203572T>A , CM000673.1:g.108203572T>A	GRCh37
NC_000011.8:g.107708782T>A	NCBI36
NG_009830.1:g.115014T>A , LRG_135:g.115014T>A
NG_054724.1:g.141988A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7872T>A (ATM)	ENSP00000388058.2:p.Cys2624Ter
ENST00000713593.1:c.*7343T>A (ATM)	ENSP00000518889.1:n.*7343T>A
ENST00000278616.9:c.7872T>A (ATM)	ENSP00000278616.4:p.Cys2624Ter
ENST00000525056.2:n.2291T>A (ATM)
ENST00000525537.3:n.1553T>A (ATM)
ENST00000638786.2:n.625+808T>A (ATM)
ENST00000682286.1:n.2629T>A (ATM)
ENST00000682302.1:n.2290T>A (ATM)
ENST00000683174.1:n.9356T>A (ATM)
ENST00000683524.1:n.3096T>A (ATM)
ENST00000684152.1:n.3344-1041T>A (ATM)
ENST00000684180.1:n.346T>A (ATM)
ENST00000684447.1:n.3380T>A (ATM)
ENST00000527805.6:c.*2936T>A (ATM)	ENSP00000435747.2:n.*2936T>A
ENST00000675595.1:c.*3007T>A (ATM)	ENSP00000502563.1:n.*3007T>A
ENST00000675843.1:c.7872T>A (ATM) MANE Select	ENSP00000501606.1:p.Cys2624Ter
ENST00000278616.8:c.7872T>A (ATM)	ENSP00000278616.4:p.Cys2624Ter
ENST00000452508.6:c.7872T>A (ATM)	ENSP00000388058.2:p.Cys2624Ter
ENST00000524755.5:c.300-1278A>T (C11orf65)
ENST00000524792.5:n.4087T>A (ATM)
ENST00000525056.1:n.69T>A (ATM)
ENST00000525729.5:c.641-23774A>T (C11orf65)	ENSP00000433395.1:n.641-23774A>T
ENST00000527531.5:c.*1270-1278A>T (C11orf65)	ENSP00000431706.1:n.*1270-1278A>T
ENST00000533690.5:n.3276T>A (ATM)
ENST00000533979.5:n.84T>A (ATM)
ENST00000615746.4:c.*1270-1278A>T (C11orf65)	ENSP00000483537.1:n.*1270-1278A>T
NM_000051.3:c.7872T>A , LRG_135t1:c.7872T>A (ATM)	NP_000042.3:p.Cys2624Ter
XM_005271414.3:c.*39-1278A>T (C11orf65)	XP_005271471.1:n.*39-1278A>T
XM_005271415.3:c.805-1278A>T (C11orf65)	XP_005271472.1:n.805-1278A>T
XM_005271561.3:c.7872T>A (ATM)	XP_005271618.2:p.Cys2624Ter
XM_005271562.3:c.7872T>A (ATM)	XP_005271619.2:p.Cys2624Ter
XM_006718843.2:c.7872T>A (ATM)	XP_006718906.1:p.Cys2624Ter
XM_006718845.1:c.3828T>A (ATM)	XP_006718908.1:p.Cys1276Ter
XM_011542840.1:c.7872T>A (ATM)	XP_011541142.1:p.Cys2624Ter
XM_011542841.1:c.7872T>A (ATM)	XP_011541143.1:p.Cys2624Ter
XM_011542842.1:c.7707T>A (ATM)	XP_011541144.1:p.Cys2569Ter
XM_011542843.1:c.7872T>A (ATM)	XP_011541145.1:p.Cys2624Ter
XM_011542844.1:c.6828T>A (ATM)	XP_011541146.1:p.Cys2276Ter
XM_011542845.1:c.6564T>A (ATM)	XP_011541147.1:p.Cys2188Ter
XM_011542847.1:c.2943T>A (ATM)	XP_011541149.1:p.Cys981Ter
NM_001330368.1:c.641-23774A>T (C11orf65)	NP_001317297.1:n.641-23774A>T
NM_001351110.1:c.*38+2375A>T (C11orf65)	NP_001338039.1:n.*38+2375A>T
NM_001351834.1:c.7872T>A (ATM)	NP_001338763.1:p.Cys2624Ter
NR_147053.2:n.2375-1278A>T (C11orf65)
XM_005271414.4:c.*39-1278A>T (C11orf65)	XP_005271471.1:n.*39-1278A>T
XM_005271415.4:c.805-1278A>T (C11orf65)	XP_005271472.1:n.805-1278A>T
XM_005271562.5:c.7872T>A (ATM)	XP_005271619.2:p.Cys2624Ter
XM_006718843.4:c.7872T>A (ATM)	XP_006718906.1:p.Cys2624Ter
XM_006718845.2:c.3828T>A (ATM)	XP_006718908.1:p.Cys1276Ter
XM_011542840.3:c.7872T>A (ATM)	XP_011541142.1:p.Cys2624Ter
XM_011542842.3:c.7707T>A (ATM)	XP_011541144.1:p.Cys2569Ter
XM_011542843.2:c.7872T>A (ATM)	XP_011541145.1:p.Cys2624Ter
XM_011542844.3:c.6828T>A (ATM)	XP_011541146.1:p.Cys2276Ter
XM_011542845.2:c.6564T>A (ATM)	XP_011541147.1:p.Cys2188Ter
XM_017017789.2:c.7872T>A (ATM)	XP_016873278.1:p.Cys2624Ter
XM_017017790.2:c.7872T>A (ATM)	XP_016873279.1:p.Cys2624Ter
NM_001330368.2:c.641-23774A>T (C11orf65)	NP_001317297.1:n.641-23774A>T
NM_001351110.2:c.*38+2375A>T (C11orf65)	NP_001338039.1:n.*38+2375A>T
NM_001351834.2:c.7872T>A (ATM)	NP_001338763.1:p.Cys2624Ter
NM_000051.4:c.7872T>A (ATM) MANE Select	NP_000042.3:p.Cys2624Ter
NR_147053.3:n.2373-1278A>T (C11orf65)