Canonical Allele Identifier: CA157177
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 133635
dbSNP Id: rs377648506

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108333946T>C , CM000673.2:g.108333946T>C GRCh38
NC_000011.9:g.108204673T>C , CM000673.1:g.108204673T>C GRCh37
NC_000011.8:g.107709883T>C NCBI36
NG_009830.1:g.116115T>C , LRG_135:g.116115T>C
NG_054724.1:g.140887A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000527805.6:c.*3052T>C ENSP00000435747.2:p.=
ENST00000675595.1:c.*3123T>C ENSP00000502563.1:p.=
ENST00000675843.1:c.7988T>C (ATM) MANE Select ENSP00000501606.1:p.Val2663Ala
ENST00000278616.8:c.7988T>C ENSP00000278616.4:p.Val2663Ala
ENST00000452508.6:c.7988T>C ENSP00000388058.2:p.Val2663Ala
ENST00000524755.5:n.299+1274A>G
ENST00000524792.5:n.4203T>C
ENST00000525056.1:n.185T>C
ENST00000525729.5:c.641-24875A>G ENSP00000433395.1:p.=
ENST00000527531.5:c.*1269+1274A>G ENSP00000431706.1:p.=
ENST00000533979.5:n.200T>C
ENST00000615746.4:c.*1269+1274A>G ENSP00000483537.1:p.=
NM_000051.3:c.7988T>C , LRG_135t1:c.7988T>C (ATM) NP_000042.3:p.Val2663Ala
XM_005271414.3:c.*38+1274A>G (C11orf65) XP_005271471.1:p.=
XM_005271415.3:c.804+1274A>G (C11orf65) XP_005271472.1:p.=
XM_005271561.3:c.7988T>C (ATM) XP_005271618.2:p.Val2663Ala
XM_005271562.3:c.7988T>C (ATM) XP_005271619.2:p.Val2663Ala
XM_006718843.2:c.7988T>C (ATM) XP_006718906.1:p.Val2663Ala
XM_006718845.1:c.3944T>C (ATM) XP_006718908.1:p.Val1315Ala
XM_011542840.1:c.7988T>C (ATM) XP_011541142.1:p.Val2663Ala
XM_011542841.1:c.7988T>C (ATM) XP_011541143.1:p.Val2663Ala
XM_011542842.1:c.7823T>C (ATM) XP_011541144.1:p.Val2608Ala
XM_011542843.1:c.7988T>C (ATM) XP_011541145.1:p.Val2663Ala
XM_011542844.1:c.6944T>C (ATM) XP_011541146.1:p.Val2315Ala
XM_011542845.1:c.6680T>C (ATM) XP_011541147.1:p.Val2227Ala
XM_011542847.1:c.3059T>C (ATM) XP_011541149.1:p.Val1020Ala
NM_001330368.1:c.641-24875A>G (C11orf65) NP_001317297.1:p.=
NM_001351110.1:c.*38+1274A>G (C11orf65) NP_001338039.1:p.=
NM_001351834.1:c.7988T>C (ATM) NP_001338763.1:p.Val2663Ala
NR_147053.2:n.2374+1274A>G (C11orf65)
XM_005271414.4:c.*38+1274A>G (C11orf65) XP_005271471.1:p.=
XM_005271415.4:c.804+1274A>G (C11orf65) XP_005271472.1:p.=
XM_005271562.5:c.7988T>C (ATM) XP_005271619.2:p.Val2663Ala
XM_006718843.4:c.7988T>C (ATM) XP_006718906.1:p.Val2663Ala
XM_006718845.2:c.3944T>C (ATM) XP_006718908.1:p.Val1315Ala
XM_011542840.3:c.7988T>C (ATM) XP_011541142.1:p.Val2663Ala
XM_011542842.3:c.7823T>C (ATM) XP_011541144.1:p.Val2608Ala
XM_011542843.2:c.7988T>C (ATM) XP_011541145.1:p.Val2663Ala
XM_011542844.3:c.6944T>C (ATM) XP_011541146.1:p.Val2315Ala
XM_011542845.2:c.6680T>C (ATM) XP_011541147.1:p.Val2227Ala
XM_017017789.2:c.7988T>C (ATM) XP_016873278.1:p.Val2663Ala
XM_017017790.2:c.7988T>C (ATM) XP_016873279.1:p.Val2663Ala
NM_001330368.2:c.641-24875A>G (C11orf65) NP_001317297.1:p.=
NM_001351110.2:c.*38+1274A>G (C11orf65) NP_001338039.1:p.=
NM_001351834.2:c.7988T>C (ATM) NP_001338763.1:p.Val2663Ala
NM_000051.4:c.7988T>C (ATM) MANE Select NP_000042.3:p.Val2663Ala
NR_147053.3:n.2372+1274A>G (C11orf65)