Canonical Allele Identifier: CA337507

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 215980
• ClinVar RCV Id: RCV000197870 ; RCV000215938 ; RCV000420030 ; RCV001250432
• dbSNP Id: rs863224440
• MyVariant Identifiers: chr11:g.108203626A>C (hg19) ; chr11:g.108332899A>C (hg38)
• PubMed: PMID:8808599 ; PMID:9443866 ; PMID:17726045

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332899A>C , CM000673.2:g.108332899A>C	GRCh38
NC_000011.9:g.108203626A>C , CM000673.1:g.108203626A>C	GRCh37
NC_000011.8:g.107708836A>C	NCBI36
NG_009830.1:g.115068A>C , LRG_135:g.115068A>C
NG_054724.1:g.141934T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7926A>C (ATM)	ENSP00000388058.2:p.Arg2642Ser
ENST00000713593.1:c.*7397A>C (ATM)	ENSP00000518889.1:n.*7397A>C
ENST00000278616.9:c.7926A>C (ATM)	ENSP00000278616.4:p.Arg2642Ser
ENST00000525056.2:n.2345A>C (ATM)
ENST00000525537.3:n.1607A>C (ATM)
ENST00000638786.2:n.625+862A>C (ATM)
ENST00000682286.1:n.2683A>C (ATM)
ENST00000682302.1:n.2344A>C (ATM)
ENST00000683174.1:n.9410A>C (ATM)
ENST00000683524.1:n.3150A>C (ATM)
ENST00000684152.1:n.3344-987A>C (ATM)
ENST00000684180.1:n.400A>C (ATM)
ENST00000684447.1:n.3434A>C (ATM)
ENST00000527805.6:c.*2990A>C (ATM)	ENSP00000435747.2:n.*2990A>C
ENST00000675595.1:c.*3061A>C (ATM)	ENSP00000502563.1:n.*3061A>C
ENST00000675843.1:c.7926A>C (ATM) MANE Select	ENSP00000501606.1:p.Arg2642Ser
ENST00000278616.8:c.7926A>C (ATM)	ENSP00000278616.4:p.Arg2642Ser
ENST00000452508.6:c.7926A>C (ATM)	ENSP00000388058.2:p.Arg2642Ser
ENST00000524755.5:c.300-1332T>G (C11orf65)
ENST00000524792.5:n.4141A>C (ATM)
ENST00000525056.1:n.123A>C (ATM)
ENST00000525729.5:c.641-23828T>G (C11orf65)	ENSP00000433395.1:n.641-23828T>G
ENST00000527531.5:c.*1270-1332T>G (C11orf65)	ENSP00000431706.1:n.*1270-1332T>G
ENST00000533690.5:n.3330A>C (ATM)
ENST00000533979.5:n.138A>C (ATM)
ENST00000615746.4:c.*1270-1332T>G (C11orf65)	ENSP00000483537.1:n.*1270-1332T>G
NM_000051.3:c.7926A>C , LRG_135t1:c.7926A>C (ATM)	NP_000042.3:p.Arg2642Ser
XM_005271414.3:c.*39-1332T>G (C11orf65)	XP_005271471.1:n.*39-1332T>G
XM_005271415.3:c.805-1332T>G (C11orf65)	XP_005271472.1:n.805-1332T>G
XM_005271561.3:c.7926A>C (ATM)	XP_005271618.2:p.Arg2642Ser
XM_005271562.3:c.7926A>C (ATM)	XP_005271619.2:p.Arg2642Ser
XM_006718843.2:c.7926A>C (ATM)	XP_006718906.1:p.Arg2642Ser
XM_006718845.1:c.3882A>C (ATM)	XP_006718908.1:p.Arg1294Ser
XM_011542840.1:c.7926A>C (ATM)	XP_011541142.1:p.Arg2642Ser
XM_011542841.1:c.7926A>C (ATM)	XP_011541143.1:p.Arg2642Ser
XM_011542842.1:c.7761A>C (ATM)	XP_011541144.1:p.Arg2587Ser
XM_011542843.1:c.7926A>C (ATM)	XP_011541145.1:p.Arg2642Ser
XM_011542844.1:c.6882A>C (ATM)	XP_011541146.1:p.Arg2294Ser
XM_011542845.1:c.6618A>C (ATM)	XP_011541147.1:p.Arg2206Ser
XM_011542847.1:c.2997A>C (ATM)	XP_011541149.1:p.Arg999Ser
NM_001330368.1:c.641-23828T>G (C11orf65)	NP_001317297.1:n.641-23828T>G
NM_001351110.1:c.*38+2321T>G (C11orf65)	NP_001338039.1:n.*38+2321T>G
NM_001351834.1:c.7926A>C (ATM)	NP_001338763.1:p.Arg2642Ser
NR_147053.2:n.2375-1332T>G (C11orf65)
XM_005271414.4:c.*39-1332T>G (C11orf65)	XP_005271471.1:n.*39-1332T>G
XM_005271415.4:c.805-1332T>G (C11orf65)	XP_005271472.1:n.805-1332T>G
XM_005271562.5:c.7926A>C (ATM)	XP_005271619.2:p.Arg2642Ser
XM_006718843.4:c.7926A>C (ATM)	XP_006718906.1:p.Arg2642Ser
XM_006718845.2:c.3882A>C (ATM)	XP_006718908.1:p.Arg1294Ser
XM_011542840.3:c.7926A>C (ATM)	XP_011541142.1:p.Arg2642Ser
XM_011542842.3:c.7761A>C (ATM)	XP_011541144.1:p.Arg2587Ser
XM_011542843.2:c.7926A>C (ATM)	XP_011541145.1:p.Arg2642Ser
XM_011542844.3:c.6882A>C (ATM)	XP_011541146.1:p.Arg2294Ser
XM_011542845.2:c.6618A>C (ATM)	XP_011541147.1:p.Arg2206Ser
XM_017017789.2:c.7926A>C (ATM)	XP_016873278.1:p.Arg2642Ser
XM_017017790.2:c.7926A>C (ATM)	XP_016873279.1:p.Arg2642Ser
NM_001330368.2:c.641-23828T>G (C11orf65)	NP_001317297.1:n.641-23828T>G
NM_001351110.2:c.*38+2321T>G (C11orf65)	NP_001338039.1:n.*38+2321T>G
NM_001351834.2:c.7926A>C (ATM)	NP_001338763.1:p.Arg2642Ser
NM_000051.4:c.7926A>C (ATM) MANE Select	NP_000042.3:p.Arg2642Ser
NR_147053.3:n.2373-1332T>G (C11orf65)