Canonical Allele Identifier: CA382529665

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 853990
• ClinVar RCV Id: RCV001058926
• dbSNP Id: rs1060501650
• COSMIC: COSM5360563 ; COSM5360564
• MyVariant Identifiers: chr11:g.108235838G>C (hg19) ; chr11:g.108365111G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108365111G>C , CM000673.2:g.108365111G>C	GRCh38
NC_000011.9:g.108235838G>C , CM000673.1:g.108235838G>C	GRCh37
NC_000011.8:g.107741048G>C	NCBI36
NG_009830.1:g.147280G>C , LRG_135:g.147280G>C
NG_054724.1:g.109722C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8880G>C (ATM)	ENSP00000388058.2:p.Trp2960Cys
ENST00000713593.1:c.*8351G>C (ATM)	ENSP00000518889.1:n.*8351G>C
ENST00000278616.9:c.8880G>C (ATM)	ENSP00000278616.4:p.Trp2960Cys
ENST00000638786.2:n.1578G>C (ATM)
ENST00000682286.1:n.3637G>C (ATM)
ENST00000682302.1:n.3298G>C (ATM)
ENST00000682569.1:n.2227G>C (ATM)
ENST00000683174.1:n.10364G>C (ATM)
ENST00000683524.1:n.4104G>C (ATM)
ENST00000684152.1:n.4296G>C (ATM)
ENST00000684180.1:n.1354G>C (ATM)
ENST00000684447.1:n.5373G>C (ATM)
ENST00000527805.6:c.*3944G>C (ATM)	ENSP00000435747.2:n.*3944G>C
ENST00000675595.1:c.*4015G>C (ATM)	ENSP00000502563.1:n.*4015G>C
ENST00000675843.1:c.8880G>C (ATM) MANE Select	ENSP00000501606.1:p.Trp2960Cys
ENST00000278616.8:c.8880G>C (ATM)	ENSP00000278616.4:p.Trp2960Cys
ENST00000452508.6:c.8880G>C (ATM)	ENSP00000388058.2:p.Trp2960Cys
ENST00000524755.5:c.226+28097C>G (C11orf65)
ENST00000524792.5:n.5095G>C (ATM)
ENST00000525178.5:n.368G>C (ATM)
ENST00000525729.5:c.640+20809C>G (C11orf65)	ENSP00000433395.1:n.640+20809C>G
ENST00000526725.1:n.272-24747C>G (C11orf65)
ENST00000527181.1:n.219G>C (ATM)
ENST00000527531.5:c.*2-9002C>G (C11orf65)	ENSP00000431706.1:n.*2-9002C>G
ENST00000615746.4:c.*2-9002C>G (C11orf65)	ENSP00000483537.1:n.*2-9002C>G
NM_000051.3:c.8880G>C , LRG_135t1:c.8880G>C (ATM)	NP_000042.3:p.Trp2960Cys
XM_005271414.3:c.787+20809C>G (C11orf65)	XP_005271471.1:n.787+20809C>G
XM_005271415.3:c.731+28097C>G (C11orf65)	XP_005271472.1:n.731+28097C>G
XM_005271561.3:c.8880G>C (ATM)	XP_005271618.2:p.Trp2960Cys
XM_005271562.3:c.8880G>C (ATM)	XP_005271619.2:p.Trp2960Cys
XM_006718843.2:c.8880G>C (ATM)	XP_006718906.1:p.Trp2960Cys
XM_006718845.1:c.4836G>C (ATM)	XP_006718908.1:p.Trp1612Cys
XM_011542640.1:c.787+20809C>G (C11orf65)	XP_011540942.1:n.787+20809C>G
XM_011542642.1:c.732-16038C>G (C11orf65)	XP_011540944.1:n.732-16038C>G
XM_011542643.1:c.732-24747C>G (C11orf65)	XP_011540945.1:n.732-24747C>G
XM_011542840.1:c.8880G>C (ATM)	XP_011541142.1:p.Trp2960Cys
XM_011542841.1:c.8880G>C (ATM)	XP_011541143.1:p.Trp2960Cys
XM_011542842.1:c.8715G>C (ATM)	XP_011541144.1:p.Trp2905Cys
XM_011542844.1:c.7836G>C (ATM)	XP_011541146.1:p.Trp2612Cys
XM_011542845.1:c.7572G>C (ATM)	XP_011541147.1:p.Trp2524Cys
XM_011542847.1:c.3951G>C (ATM)	XP_011541149.1:p.Trp1317Cys
NM_001330368.1:c.640+20809C>G (C11orf65)	NP_001317297.1:n.640+20809C>G
NM_001351110.1:c.694+20809C>G (C11orf65)	NP_001338039.1:n.694+20809C>G
NM_001351834.1:c.8880G>C (ATM)	NP_001338763.1:p.Trp2960Cys
NR_147053.2:n.1107-9002C>G (C11orf65)
XM_005271414.4:c.787+20809C>G (C11orf65)	XP_005271471.1:n.787+20809C>G
XM_005271415.4:c.731+28097C>G (C11orf65)	XP_005271472.1:n.731+28097C>G
XM_005271562.5:c.8880G>C (ATM)	XP_005271619.2:p.Trp2960Cys
XM_006718843.4:c.8880G>C (ATM)	XP_006718906.1:p.Trp2960Cys
XM_006718845.2:c.4836G>C (ATM)	XP_006718908.1:p.Trp1612Cys
XM_011542640.2:c.787+20809C>G (C11orf65)	XP_011540942.1:n.787+20809C>G
XM_011542643.2:c.732-24747C>G (C11orf65)	XP_011540945.1:n.732-24747C>G
XM_011542840.3:c.8880G>C (ATM)	XP_011541142.1:p.Trp2960Cys
XM_011542842.3:c.8715G>C (ATM)	XP_011541144.1:p.Trp2905Cys
XM_011542844.3:c.7836G>C (ATM)	XP_011541146.1:p.Trp2612Cys
XM_011542845.2:c.7572G>C (ATM)	XP_011541147.1:p.Trp2524Cys
XM_017017247.1:c.903+17949C>G (C11orf65)	XP_016872736.1:n.903+17949C>G
XM_017017789.2:c.8880G>C (ATM)	XP_016873278.1:p.Trp2960Cys
XM_017017790.2:c.8880G>C (ATM)	XP_016873279.1:p.Trp2960Cys
NM_001330368.2:c.640+20809C>G (C11orf65)	NP_001317297.1:n.640+20809C>G
NM_001351110.2:c.694+20809C>G (C11orf65)	NP_001338039.1:n.694+20809C>G
NM_001351834.2:c.8880G>C (ATM)	NP_001338763.1:p.Trp2960Cys
NM_000051.4:c.8880G>C (ATM) MANE Select	NP_000042.3:p.Trp2960Cys
NR_147053.3:n.1105-9002C>G (C11orf65)