Canonical Allele Identifier: CA382562238

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 944244
• ClinVar RCV Id: RCV001214602
• dbSNP Id: rs2086691196
• MyVariant Identifiers: chr11:g.108205826A>G (hg19) ; chr11:g.108335099A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335099A>G , CM000673.2:g.108335099A>G	GRCh38
NC_000011.9:g.108205826A>G , CM000673.1:g.108205826A>G	GRCh37
NC_000011.8:g.107711036A>G	NCBI36
NG_009830.1:g.117268A>G , LRG_135:g.117268A>G
NG_054724.1:g.139734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8141A>G (ATM)	ENSP00000388058.2:p.Gln2714Arg
ENST00000713593.1:c.*7612A>G (ATM)	ENSP00000518889.1:n.*7612A>G
ENST00000278616.9:c.8141A>G (ATM)	ENSP00000278616.4:p.Gln2714Arg
ENST00000525056.2:n.2560A>G (ATM)
ENST00000638786.2:n.839A>G (ATM)
ENST00000682286.1:n.2898A>G (ATM)
ENST00000682302.1:n.2559A>G (ATM)
ENST00000683174.1:n.9625A>G (ATM)
ENST00000683524.1:n.3365A>G (ATM)
ENST00000684152.1:n.3557A>G (ATM)
ENST00000684180.1:n.615A>G (ATM)
ENST00000684447.1:n.4634A>G (ATM)
ENST00000527805.6:c.*3205A>G (ATM)	ENSP00000435747.2:n.*3205A>G
ENST00000675595.1:c.*3276A>G (ATM)	ENSP00000502563.1:n.*3276A>G
ENST00000675843.1:c.8141A>G (ATM) MANE Select	ENSP00000501606.1:p.Gln2714Arg
ENST00000278616.8:c.8141A>G (ATM)	ENSP00000278616.4:p.Gln2714Arg
ENST00000452508.6:c.8141A>G (ATM)	ENSP00000388058.2:p.Gln2714Arg
ENST00000524755.5:c.299+121T>C (C11orf65)
ENST00000524792.5:n.4356A>G (ATM)
ENST00000525056.1:n.338A>G (ATM)
ENST00000525729.5:c.641-26028T>C (C11orf65)	ENSP00000433395.1:n.641-26028T>C
ENST00000527531.5:c.*1269+121T>C (C11orf65)	ENSP00000431706.1:n.*1269+121T>C
ENST00000533979.5:n.353A>G (ATM)
ENST00000615746.4:c.*1269+121T>C (C11orf65)	ENSP00000483537.1:n.*1269+121T>C
NM_000051.3:c.8141A>G , LRG_135t1:c.8141A>G (ATM)	NP_000042.3:p.Gln2714Arg
XM_005271414.3:c.*38+121T>C (C11orf65)	XP_005271471.1:n.*38+121T>C
XM_005271415.3:c.804+121T>C (C11orf65)	XP_005271472.1:n.804+121T>C
XM_005271561.3:c.8141A>G (ATM)	XP_005271618.2:p.Gln2714Arg
XM_005271562.3:c.8141A>G (ATM)	XP_005271619.2:p.Gln2714Arg
XM_006718843.2:c.8141A>G (ATM)	XP_006718906.1:p.Gln2714Arg
XM_006718845.1:c.4097A>G (ATM)	XP_006718908.1:p.Gln1366Arg
XM_011542840.1:c.8141A>G (ATM)	XP_011541142.1:p.Gln2714Arg
XM_011542841.1:c.8141A>G (ATM)	XP_011541143.1:p.Gln2714Arg
XM_011542842.1:c.7976A>G (ATM)	XP_011541144.1:p.Gln2659Arg
XM_011542843.1:c.8141A>G (ATM)	XP_011541145.1:p.Gln2714Arg
XM_011542844.1:c.7097A>G (ATM)	XP_011541146.1:p.Gln2366Arg
XM_011542845.1:c.6833A>G (ATM)	XP_011541147.1:p.Gln2278Arg
XM_011542847.1:c.3212A>G (ATM)	XP_011541149.1:p.Gln1071Arg
NM_001330368.1:c.641-26028T>C (C11orf65)	NP_001317297.1:n.641-26028T>C
NM_001351110.1:c.*38+121T>C (C11orf65)	NP_001338039.1:n.*38+121T>C
NM_001351834.1:c.8141A>G (ATM)	NP_001338763.1:p.Gln2714Arg
NR_147053.2:n.2374+121T>C (C11orf65)
XM_005271414.4:c.*38+121T>C (C11orf65)	XP_005271471.1:n.*38+121T>C
XM_005271415.4:c.804+121T>C (C11orf65)	XP_005271472.1:n.804+121T>C
XM_005271562.5:c.8141A>G (ATM)	XP_005271619.2:p.Gln2714Arg
XM_006718843.4:c.8141A>G (ATM)	XP_006718906.1:p.Gln2714Arg
XM_006718845.2:c.4097A>G (ATM)	XP_006718908.1:p.Gln1366Arg
XM_011542840.3:c.8141A>G (ATM)	XP_011541142.1:p.Gln2714Arg
XM_011542842.3:c.7976A>G (ATM)	XP_011541144.1:p.Gln2659Arg
XM_011542843.2:c.8141A>G (ATM)	XP_011541145.1:p.Gln2714Arg
XM_011542844.3:c.7097A>G (ATM)	XP_011541146.1:p.Gln2366Arg
XM_011542845.2:c.6833A>G (ATM)	XP_011541147.1:p.Gln2278Arg
XM_017017789.2:c.8141A>G (ATM)	XP_016873278.1:p.Gln2714Arg
XM_017017790.2:c.8141A>G (ATM)	XP_016873279.1:p.Gln2714Arg
NM_001330368.2:c.641-26028T>C (C11orf65)	NP_001317297.1:n.641-26028T>C
NM_001351110.2:c.*38+121T>C (C11orf65)	NP_001338039.1:n.*38+121T>C
NM_001351834.2:c.8141A>G (ATM)	NP_001338763.1:p.Gln2714Arg
NM_000051.4:c.8141A>G (ATM) MANE Select	NP_000042.3:p.Gln2714Arg
NR_147053.3:n.2372+121T>C (C11orf65)