Canonical Allele Identifier: CA382560707

Gene: ATM C11orf65

Linked Data

• MyVariant Identifiers: chr11:g.108202205T>C (hg19) ; chr11:g.108331478T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331478T>C , CM000673.2:g.108331478T>C	GRCh38
NC_000011.9:g.108202205T>C , CM000673.1:g.108202205T>C	GRCh37
NC_000011.8:g.107707415T>C	NCBI36
NG_009830.1:g.113647T>C , LRG_135:g.113647T>C
NG_054724.1:g.143355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7550T>C (ATM)	ENSP00000388058.2:p.Leu2517Ser
ENST00000713593.1:c.*7021T>C (ATM)	ENSP00000518889.1:n.*7021T>C
ENST00000278616.9:c.7550T>C (ATM)	ENSP00000278616.4:p.Leu2517Ser
ENST00000525056.2:n.1969T>C (ATM)
ENST00000525537.3:n.507T>C (ATM)
ENST00000638786.2:n.387T>C (ATM)
ENST00000682286.1:n.2307T>C (ATM)
ENST00000682302.1:n.1968T>C (ATM)
ENST00000683174.1:n.9034T>C (ATM)
ENST00000683524.1:n.2774T>C (ATM)
ENST00000684152.1:n.3264T>C (ATM)
ENST00000684447.1:n.2013T>C (ATM)
ENST00000527805.6:c.*2614T>C (ATM)	ENSP00000435747.2:n.*2614T>C
ENST00000675595.1:c.*2685T>C (ATM)	ENSP00000502563.1:n.*2685T>C
ENST00000675843.1:c.7550T>C (ATM) MANE Select	ENSP00000501606.1:p.Leu2517Ser
ENST00000278616.8:c.7550T>C (ATM)	ENSP00000278616.4:p.Leu2517Ser
ENST00000452508.6:c.7550T>C (ATM)	ENSP00000388058.2:p.Leu2517Ser
ENST00000524755.5:c.389A>G (C11orf65)
ENST00000524792.5:n.3765T>C (ATM)
ENST00000525729.5:c.641-22407A>G (C11orf65)	ENSP00000433395.1:n.641-22407A>G
ENST00000527531.5:c.*1359A>G (C11orf65)	ENSP00000431706.1:n.*1359A>G
ENST00000533690.5:n.2954T>C (ATM)
ENST00000615746.4:c.*1359A>G (C11orf65)	ENSP00000483537.1:n.*1359A>G
NM_000051.3:c.7550T>C , LRG_135t1:c.7550T>C (ATM)	NP_000042.3:p.Leu2517Ser
XM_005271414.3:c.*128A>G (C11orf65)	XP_005271471.1:n.*128A>G
XM_005271415.3:c.*72A>G (C11orf65)	XP_005271472.1:n.*72A>G
XM_005271561.3:c.7550T>C (ATM)	XP_005271618.2:p.Leu2517Ser
XM_005271562.3:c.7550T>C (ATM)	XP_005271619.2:p.Leu2517Ser
XM_006718843.2:c.7550T>C (ATM)	XP_006718906.1:p.Leu2517Ser
XM_006718845.1:c.3506T>C (ATM)	XP_006718908.1:p.Leu1169Ser
XM_011542840.1:c.7550T>C (ATM)	XP_011541142.1:p.Leu2517Ser
XM_011542841.1:c.7550T>C (ATM)	XP_011541143.1:p.Leu2517Ser
XM_011542842.1:c.7385T>C (ATM)	XP_011541144.1:p.Leu2462Ser
XM_011542843.1:c.7550T>C (ATM)	XP_011541145.1:p.Leu2517Ser
XM_011542844.1:c.6506T>C (ATM)	XP_011541146.1:p.Leu2169Ser
XM_011542845.1:c.6242T>C (ATM)	XP_011541147.1:p.Leu2081Ser
XM_011542847.1:c.2621T>C (ATM)	XP_011541149.1:p.Leu874Ser
NM_001330368.1:c.641-22407A>G (C11orf65)	NP_001317297.1:n.641-22407A>G
NM_001351110.1:c.*38+3742A>G (C11orf65)	NP_001338039.1:n.*38+3742A>G
NM_001351834.1:c.7550T>C (ATM)	NP_001338763.1:p.Leu2517Ser
NR_147053.2:n.2464A>G (C11orf65)
XM_005271414.4:c.*128A>G (C11orf65)	XP_005271471.1:n.*128A>G
XM_005271415.4:c.*72A>G (C11orf65)	XP_005271472.1:n.*72A>G
XM_005271562.5:c.7550T>C (ATM)	XP_005271619.2:p.Leu2517Ser
XM_006718843.4:c.7550T>C (ATM)	XP_006718906.1:p.Leu2517Ser
XM_006718845.2:c.3506T>C (ATM)	XP_006718908.1:p.Leu1169Ser
XM_011542840.3:c.7550T>C (ATM)	XP_011541142.1:p.Leu2517Ser
XM_011542842.3:c.7385T>C (ATM)	XP_011541144.1:p.Leu2462Ser
XM_011542843.2:c.7550T>C (ATM)	XP_011541145.1:p.Leu2517Ser
XM_011542844.3:c.6506T>C (ATM)	XP_011541146.1:p.Leu2169Ser
XM_011542845.2:c.6242T>C (ATM)	XP_011541147.1:p.Leu2081Ser
XM_017017789.2:c.7550T>C (ATM)	XP_016873278.1:p.Leu2517Ser
XM_017017790.2:c.7550T>C (ATM)	XP_016873279.1:p.Leu2517Ser
NM_001330368.2:c.641-22407A>G (C11orf65)	NP_001317297.1:n.641-22407A>G
NM_001351110.2:c.*38+3742A>G (C11orf65)	NP_001338039.1:n.*38+3742A>G
NM_001351834.2:c.7550T>C (ATM)	NP_001338763.1:p.Leu2517Ser
NM_000051.4:c.7550T>C (ATM) MANE Select	NP_000042.3:p.Leu2517Ser
NR_147053.3:n.2462A>G (C11orf65)