Canonical Allele Identifier: CA287019
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 127459
dbSNP Id: rs587779872

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108345818C>T , CM000673.2:g.108345818C>T GRCh38
NC_000011.9:g.108216545C>T , CM000673.1:g.108216545C>T GRCh37
NC_000011.8:g.107721755C>T NCBI36
NG_009830.1:g.127987C>T , LRG_135:g.127987C>T
NG_054724.1:g.129015G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8494C>T (ATM) ENSP00000388058.2:p.Arg2832Cys
ENST00000713593.1:c.*7965C>T (ATM) ENSP00000518889.1:n.*7965C>T
ENST00000278616.9:c.8494C>T (ATM) ENSP00000278616.4:p.Arg2832Cys
ENST00000638786.2:n.1192C>T (ATM)
ENST00000682286.1:n.3251C>T (ATM)
ENST00000682302.1:n.2912C>T (ATM)
ENST00000683174.1:n.9978C>T (ATM)
ENST00000683524.1:n.3718C>T (ATM)
ENST00000684152.1:n.3910C>T (ATM)
ENST00000684180.1:n.968C>T (ATM)
ENST00000684447.1:n.4987C>T (ATM)
ENST00000527805.6:c.*3558C>T (ATM) ENSP00000435747.2:n.*3558C>T
ENST00000675595.1:c.*3629C>T (ATM) ENSP00000502563.1:n.*3629C>T
ENST00000675843.1:c.8494C>T (ATM) MANE Select ENSP00000501606.1:p.Arg2832Cys
ENST00000278616.8:c.8494C>T (ATM) ENSP00000278616.4:p.Arg2832Cys
ENST00000452508.6:c.8494C>T (ATM) ENSP00000388058.2:p.Arg2832Cys
ENST00000524755.5:c.227-10526G>A (C11orf65)
ENST00000524792.5:n.4709C>T (ATM)
ENST00000525729.5:c.641-36747G>A (C11orf65) ENSP00000433395.1:n.641-36747G>A
ENST00000526725.1:n.272-5454G>A (C11orf65)
ENST00000527531.5:c.*1196+9097G>A (C11orf65) ENSP00000431706.1:n.*1196+9097G>A
ENST00000615746.4:c.*1196+9097G>A (C11orf65) ENSP00000483537.1:n.*1196+9097G>A
NM_000051.3:c.8494C>T , LRG_135t1:c.8494C>T (ATM) NP_000042.3:p.Arg2832Cys
XM_005271414.3:c.788-10526G>A (C11orf65) XP_005271471.1:n.788-10526G>A
XM_005271415.3:c.732-10526G>A (C11orf65) XP_005271472.1:n.732-10526G>A
XM_005271561.3:c.8494C>T (ATM) XP_005271618.2:p.Arg2832Cys
XM_005271562.3:c.8494C>T (ATM) XP_005271619.2:p.Arg2832Cys
XM_006718843.2:c.8494C>T (ATM) XP_006718906.1:p.Arg2832Cys
XM_006718845.1:c.4450C>T (ATM) XP_006718908.1:p.Arg1484Cys
XM_011542640.1:c.788-5454G>A (C11orf65) XP_011540942.1:n.788-5454G>A
XM_011542643.1:c.732-5454G>A (C11orf65) XP_011540945.1:n.732-5454G>A
XM_011542840.1:c.8494C>T (ATM) XP_011541142.1:p.Arg2832Cys
XM_011542841.1:c.8494C>T (ATM) XP_011541143.1:p.Arg2832Cys
XM_011542842.1:c.8329C>T (ATM) XP_011541144.1:p.Arg2777Cys
XM_011542843.1:c.8494C>T (ATM) XP_011541145.1:p.Arg2832Cys
XM_011542844.1:c.7450C>T (ATM) XP_011541146.1:p.Arg2484Cys
XM_011542845.1:c.7186C>T (ATM) XP_011541147.1:p.Arg2396Cys
XM_011542847.1:c.3565C>T (ATM) XP_011541149.1:p.Arg1189Cys
NM_001330368.1:c.641-36747G>A (C11orf65) NP_001317297.1:n.641-36747G>A
NM_001351110.1:c.695-10526G>A (C11orf65) NP_001338039.1:n.695-10526G>A
NM_001351834.1:c.8494C>T (ATM) NP_001338763.1:p.Arg2832Cys
NR_147053.2:n.2301+9097G>A (C11orf65)
XM_005271414.4:c.788-10526G>A (C11orf65) XP_005271471.1:n.788-10526G>A
XM_005271415.4:c.732-10526G>A (C11orf65) XP_005271472.1:n.732-10526G>A
XM_005271562.5:c.8494C>T (ATM) XP_005271619.2:p.Arg2832Cys
XM_006718843.4:c.8494C>T (ATM) XP_006718906.1:p.Arg2832Cys
XM_006718845.2:c.4450C>T (ATM) XP_006718908.1:p.Arg1484Cys
XM_011542640.2:c.788-5454G>A (C11orf65) XP_011540942.1:n.788-5454G>A
XM_011542643.2:c.732-5454G>A (C11orf65) XP_011540945.1:n.732-5454G>A
XM_011542840.3:c.8494C>T (ATM) XP_011541142.1:p.Arg2832Cys
XM_011542842.3:c.8329C>T (ATM) XP_011541144.1:p.Arg2777Cys
XM_011542843.2:c.8494C>T (ATM) XP_011541145.1:p.Arg2832Cys
XM_011542844.3:c.7450C>T (ATM) XP_011541146.1:p.Arg2484Cys
XM_011542845.2:c.7186C>T (ATM) XP_011541147.1:p.Arg2396Cys
XM_017017247.1:c.904-5454G>A (C11orf65) XP_016872736.1:n.904-5454G>A
XM_017017789.2:c.8494C>T (ATM) XP_016873278.1:p.Arg2832Cys
XM_017017790.2:c.8494C>T (ATM) XP_016873279.1:p.Arg2832Cys
NM_001330368.2:c.641-36747G>A (C11orf65) NP_001317297.1:n.641-36747G>A
NM_001351110.2:c.695-10526G>A (C11orf65) NP_001338039.1:n.695-10526G>A
NM_001351834.2:c.8494C>T (ATM) NP_001338763.1:p.Arg2832Cys
NM_000051.4:c.8494C>T (ATM) MANE Select NP_000042.3:p.Arg2832Cys
NR_147053.3:n.2299+9097G>A (C11orf65)