Canonical Allele Identifier: CA203836

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 199662
• ClinVar RCV Id: RCV000181011 ; RCV000214902 ; RCV000537344 ; RCV000486041 ; RCV002465556
• dbSNP Id: rs794728018
• MyVariant Identifiers: chr11:g.108224553C>T (hg19) ; chr11:g.108353826C>T (hg38)
• PubMed: PMID:18066086

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353826C>T , CM000673.2:g.108353826C>T	GRCh38
NC_000011.9:g.108224553C>T , CM000673.1:g.108224553C>T	GRCh37
NC_000011.8:g.107729763C>T	NCBI36
NG_009830.1:g.135995C>T , LRG_135:g.135995C>T
NG_054724.1:g.121007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8732C>T (ATM)	ENSP00000388058.2:p.Thr2911Ile
ENST00000713593.1:c.*8203C>T (ATM)	ENSP00000518889.1:n.*8203C>T
ENST00000278616.9:c.8732C>T (ATM)	ENSP00000278616.4:p.Thr2911Ile
ENST00000638786.2:n.1430C>T (ATM)
ENST00000682286.1:n.3489C>T (ATM)
ENST00000682302.1:n.3150C>T (ATM)
ENST00000683174.1:n.10216C>T (ATM)
ENST00000683524.1:n.3956C>T (ATM)
ENST00000684152.1:n.4148C>T (ATM)
ENST00000684180.1:n.1206C>T (ATM)
ENST00000684447.1:n.5225C>T (ATM)
ENST00000527805.6:c.*3796C>T (ATM)	ENSP00000435747.2:n.*3796C>T
ENST00000675595.1:c.*3867C>T (ATM)	ENSP00000502563.1:n.*3867C>T
ENST00000675843.1:c.8732C>T (ATM) MANE Select	ENSP00000501606.1:p.Thr2911Ile
ENST00000278616.8:c.8732C>T (ATM)	ENSP00000278616.4:p.Thr2911Ile
ENST00000452508.6:c.8732C>T (ATM)	ENSP00000388058.2:p.Thr2911Ile
ENST00000524755.5:c.227-18534G>A (C11orf65)
ENST00000524792.5:n.4947C>T (ATM)
ENST00000525178.5:n.220C>T (ATM)
ENST00000525729.5:c.640+32094G>A (C11orf65)	ENSP00000433395.1:n.640+32094G>A
ENST00000526725.1:n.272-13462G>A (C11orf65)
ENST00000527181.1:n.71C>T (ATM)
ENST00000527531.5:c.*1196+1089G>A (C11orf65)	ENSP00000431706.1:n.*1196+1089G>A
ENST00000615746.4:c.*1196+1089G>A (C11orf65)	ENSP00000483537.1:n.*1196+1089G>A
NM_000051.3:c.8732C>T , LRG_135t1:c.8732C>T (ATM)	NP_000042.3:p.Thr2911Ile
XM_005271414.3:c.788-18534G>A (C11orf65)	XP_005271471.1:n.788-18534G>A
XM_005271415.3:c.732-18534G>A (C11orf65)	XP_005271472.1:n.732-18534G>A
XM_005271561.3:c.8732C>T (ATM)	XP_005271618.2:p.Thr2911Ile
XM_005271562.3:c.8732C>T (ATM)	XP_005271619.2:p.Thr2911Ile
XM_006718843.2:c.8732C>T (ATM)	XP_006718906.1:p.Thr2911Ile
XM_006718845.1:c.4688C>T (ATM)	XP_006718908.1:p.Thr1563Ile
XM_011542640.1:c.788-13462G>A (C11orf65)	XP_011540942.1:n.788-13462G>A
XM_011542642.1:c.732-4753G>A (C11orf65)	XP_011540944.1:n.732-4753G>A
XM_011542643.1:c.732-13462G>A (C11orf65)	XP_011540945.1:n.732-13462G>A
XM_011542840.1:c.8732C>T (ATM)	XP_011541142.1:p.Thr2911Ile
XM_011542841.1:c.8732C>T (ATM)	XP_011541143.1:p.Thr2911Ile
XM_011542842.1:c.8567C>T (ATM)	XP_011541144.1:p.Thr2856Ile
XM_011542844.1:c.7688C>T (ATM)	XP_011541146.1:p.Thr2563Ile
XM_011542845.1:c.7424C>T (ATM)	XP_011541147.1:p.Thr2475Ile
XM_011542847.1:c.3803C>T (ATM)	XP_011541149.1:p.Thr1268Ile
NM_001330368.1:c.640+32094G>A (C11orf65)	NP_001317297.1:n.640+32094G>A
NM_001351110.1:c.695-18534G>A (C11orf65)	NP_001338039.1:n.695-18534G>A
NM_001351834.1:c.8732C>T (ATM)	NP_001338763.1:p.Thr2911Ile
NR_147053.2:n.2301+1089G>A (C11orf65)
XM_005271414.4:c.788-18534G>A (C11orf65)	XP_005271471.1:n.788-18534G>A
XM_005271415.4:c.732-18534G>A (C11orf65)	XP_005271472.1:n.732-18534G>A
XM_005271562.5:c.8732C>T (ATM)	XP_005271619.2:p.Thr2911Ile
XM_006718843.4:c.8732C>T (ATM)	XP_006718906.1:p.Thr2911Ile
XM_006718845.2:c.4688C>T (ATM)	XP_006718908.1:p.Thr1563Ile
XM_011542640.2:c.788-13462G>A (C11orf65)	XP_011540942.1:n.788-13462G>A
XM_011542643.2:c.732-13462G>A (C11orf65)	XP_011540945.1:n.732-13462G>A
XM_011542840.3:c.8732C>T (ATM)	XP_011541142.1:p.Thr2911Ile
XM_011542842.3:c.8567C>T (ATM)	XP_011541144.1:p.Thr2856Ile
XM_011542844.3:c.7688C>T (ATM)	XP_011541146.1:p.Thr2563Ile
XM_011542845.2:c.7424C>T (ATM)	XP_011541147.1:p.Thr2475Ile
XM_017017247.1:c.904-13462G>A (C11orf65)	XP_016872736.1:n.904-13462G>A
XM_017017789.2:c.8732C>T (ATM)	XP_016873278.1:p.Thr2911Ile
XM_017017790.2:c.8732C>T (ATM)	XP_016873279.1:p.Thr2911Ile
NM_001330368.2:c.640+32094G>A (C11orf65)	NP_001317297.1:n.640+32094G>A
NM_001351110.2:c.695-18534G>A (C11orf65)	NP_001338039.1:n.695-18534G>A
NM_001351834.2:c.8732C>T (ATM)	NP_001338763.1:p.Thr2911Ile
NM_000051.4:c.8732C>T (ATM) MANE Select	NP_000042.3:p.Thr2911Ile
NR_147053.3:n.2299+1089G>A (C11orf65)