Canonical Allele Identifier: CA157174

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 133634
• ClinVar RCV Id: RCV000120159 ; RCV000130402 ; RCV000586791 ; RCV000168144 ; RCV001355591 ; RCV003325183
• dbSNP Id: rs4988125
• ExAC: 11:108203619 C / T
• gnomAD v2: 11-108203619-C-T
• gnomAD v3: 11-108332892-C-T
• gnomAD v4: 11-108332892-C-T
• MyVariant Identifiers: chr11:g.108203619C>T (hg19) ; chr11:g.108332892C>T (hg38)
• PubMed: PMID:19781682 ; PMID:20305132 ; PMID:21346221 ; PMID:22529920 ; PMID:24728327 ; PMID:25186627 ; PMID:26976419

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332892C>T , CM000673.2:g.108332892C>T	GRCh38
NC_000011.9:g.108203619C>T , CM000673.1:g.108203619C>T	GRCh37
NC_000011.8:g.107708829C>T	NCBI36
NG_009830.1:g.115061C>T , LRG_135:g.115061C>T
NG_054724.1:g.141941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7919C>T (ATM)	ENSP00000388058.2:p.Thr2640Ile
ENST00000713593.1:c.*7390C>T (ATM)	ENSP00000518889.1:n.*7390C>T
ENST00000278616.9:c.7919C>T (ATM)	ENSP00000278616.4:p.Thr2640Ile
ENST00000525056.2:n.2338C>T (ATM)
ENST00000525537.3:n.1600C>T (ATM)
ENST00000638786.2:n.625+855C>T (ATM)
ENST00000682286.1:n.2676C>T (ATM)
ENST00000682302.1:n.2337C>T (ATM)
ENST00000683174.1:n.9403C>T (ATM)
ENST00000683524.1:n.3143C>T (ATM)
ENST00000684152.1:n.3344-994C>T (ATM)
ENST00000684180.1:n.393C>T (ATM)
ENST00000684447.1:n.3427C>T (ATM)
ENST00000527805.6:c.*2983C>T (ATM)	ENSP00000435747.2:n.*2983C>T
ENST00000675595.1:c.*3054C>T (ATM)	ENSP00000502563.1:n.*3054C>T
ENST00000675843.1:c.7919C>T (ATM) MANE Select	ENSP00000501606.1:p.Thr2640Ile
ENST00000278616.8:c.7919C>T (ATM)	ENSP00000278616.4:p.Thr2640Ile
ENST00000452508.6:c.7919C>T (ATM)	ENSP00000388058.2:p.Thr2640Ile
ENST00000524755.5:c.300-1325G>A (C11orf65)
ENST00000524792.5:n.4134C>T (ATM)
ENST00000525056.1:n.116C>T (ATM)
ENST00000525729.5:c.641-23821G>A (C11orf65)	ENSP00000433395.1:n.641-23821G>A
ENST00000527531.5:c.*1270-1325G>A (C11orf65)	ENSP00000431706.1:n.*1270-1325G>A
ENST00000533690.5:n.3323C>T (ATM)
ENST00000533979.5:n.131C>T (ATM)
ENST00000615746.4:c.*1270-1325G>A (C11orf65)	ENSP00000483537.1:n.*1270-1325G>A
NM_000051.3:c.7919C>T , LRG_135t1:c.7919C>T (ATM)	NP_000042.3:p.Thr2640Ile
XM_005271414.3:c.*39-1325G>A (C11orf65)	XP_005271471.1:n.*39-1325G>A
XM_005271415.3:c.805-1325G>A (C11orf65)	XP_005271472.1:n.805-1325G>A
XM_005271561.3:c.7919C>T (ATM)	XP_005271618.2:p.Thr2640Ile
XM_005271562.3:c.7919C>T (ATM)	XP_005271619.2:p.Thr2640Ile
XM_006718843.2:c.7919C>T (ATM)	XP_006718906.1:p.Thr2640Ile
XM_006718845.1:c.3875C>T (ATM)	XP_006718908.1:p.Thr1292Ile
XM_011542840.1:c.7919C>T (ATM)	XP_011541142.1:p.Thr2640Ile
XM_011542841.1:c.7919C>T (ATM)	XP_011541143.1:p.Thr2640Ile
XM_011542842.1:c.7754C>T (ATM)	XP_011541144.1:p.Thr2585Ile
XM_011542843.1:c.7919C>T (ATM)	XP_011541145.1:p.Thr2640Ile
XM_011542844.1:c.6875C>T (ATM)	XP_011541146.1:p.Thr2292Ile
XM_011542845.1:c.6611C>T (ATM)	XP_011541147.1:p.Thr2204Ile
XM_011542847.1:c.2990C>T (ATM)	XP_011541149.1:p.Thr997Ile
NM_001330368.1:c.641-23821G>A (C11orf65)	NP_001317297.1:n.641-23821G>A
NM_001351110.1:c.*38+2328G>A (C11orf65)	NP_001338039.1:n.*38+2328G>A
NM_001351834.1:c.7919C>T (ATM)	NP_001338763.1:p.Thr2640Ile
NR_147053.2:n.2375-1325G>A (C11orf65)
XM_005271414.4:c.*39-1325G>A (C11orf65)	XP_005271471.1:n.*39-1325G>A
XM_005271415.4:c.805-1325G>A (C11orf65)	XP_005271472.1:n.805-1325G>A
XM_005271562.5:c.7919C>T (ATM)	XP_005271619.2:p.Thr2640Ile
XM_006718843.4:c.7919C>T (ATM)	XP_006718906.1:p.Thr2640Ile
XM_006718845.2:c.3875C>T (ATM)	XP_006718908.1:p.Thr1292Ile
XM_011542840.3:c.7919C>T (ATM)	XP_011541142.1:p.Thr2640Ile
XM_011542842.3:c.7754C>T (ATM)	XP_011541144.1:p.Thr2585Ile
XM_011542843.2:c.7919C>T (ATM)	XP_011541145.1:p.Thr2640Ile
XM_011542844.3:c.6875C>T (ATM)	XP_011541146.1:p.Thr2292Ile
XM_011542845.2:c.6611C>T (ATM)	XP_011541147.1:p.Thr2204Ile
XM_017017789.2:c.7919C>T (ATM)	XP_016873278.1:p.Thr2640Ile
XM_017017790.2:c.7919C>T (ATM)	XP_016873279.1:p.Thr2640Ile
NM_001330368.2:c.641-23821G>A (C11orf65)	NP_001317297.1:n.641-23821G>A
NM_001351110.2:c.*38+2328G>A (C11orf65)	NP_001338039.1:n.*38+2328G>A
NM_001351834.2:c.7919C>T (ATM)	NP_001338763.1:p.Thr2640Ile
NM_000051.4:c.7919C>T (ATM) MANE Select	NP_000042.3:p.Thr2640Ile
NR_147053.3:n.2373-1325G>A (C11orf65)