Canonical Allele Identifier: CA187795

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 184103
• ClinVar RCV Id: RCV001429278
• dbSNP Id: rs786201279
• MyVariant Identifiers: chr11:g.108202188T>C (hg19) ; chr11:g.108331461T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331461T>C , CM000673.2:g.108331461T>C	GRCh38
NC_000011.9:g.108202188T>C , CM000673.1:g.108202188T>C	GRCh37
NC_000011.8:g.107707398T>C	NCBI36
NG_009830.1:g.113630T>C , LRG_135:g.113630T>C
NG_054724.1:g.143372A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7533T>C (ATM)	ENSP00000388058.2:p.Ile2511=
ENST00000713593.1:c.*7004T>C (ATM)	ENSP00000518889.1:n.*7004T>C
ENST00000278616.9:c.7533T>C (ATM)	ENSP00000278616.4:p.Ile2511=
ENST00000525056.2:n.1952T>C (ATM)
ENST00000525537.3:n.490T>C (ATM)
ENST00000638786.2:n.370T>C (ATM)
ENST00000682286.1:n.2290T>C (ATM)
ENST00000682302.1:n.1951T>C (ATM)
ENST00000683174.1:n.9017T>C (ATM)
ENST00000683524.1:n.2757T>C (ATM)
ENST00000684152.1:n.3247T>C (ATM)
ENST00000684447.1:n.1996T>C (ATM)
ENST00000527805.6:c.*2597T>C (ATM)	ENSP00000435747.2:n.*2597T>C
ENST00000675595.1:c.*2668T>C (ATM)	ENSP00000502563.1:n.*2668T>C
ENST00000675843.1:c.7533T>C (ATM) MANE Select	ENSP00000501606.1:p.Ile2511=
ENST00000278616.8:c.7533T>C (ATM)	ENSP00000278616.4:p.Ile2511=
ENST00000452508.6:c.7533T>C (ATM)	ENSP00000388058.2:p.Ile2511=
ENST00000524755.5:c.406A>G (C11orf65)
ENST00000524792.5:n.3748T>C (ATM)
ENST00000525729.5:c.641-22390A>G (C11orf65)	ENSP00000433395.1:n.641-22390A>G
ENST00000527531.5:c.*1376A>G (C11orf65)	ENSP00000431706.1:n.*1376A>G
ENST00000533690.5:n.2937T>C (ATM)
ENST00000615746.4:c.*1376A>G (C11orf65)	ENSP00000483537.1:n.*1376A>G
NM_000051.3:c.7533T>C , LRG_135t1:c.7533T>C (ATM)	NP_000042.3:p.Ile2511=
XM_005271415.3:c.*89A>G (C11orf65)	XP_005271472.1:n.*89A>G
XM_005271561.3:c.7533T>C (ATM)	XP_005271618.2:p.Ile2511=
XM_005271562.3:c.7533T>C (ATM)	XP_005271619.2:p.Ile2511=
XM_006718843.2:c.7533T>C (ATM)	XP_006718906.1:p.Ile2511=
XM_006718845.1:c.3489T>C (ATM)	XP_006718908.1:p.Ile1163=
XM_011542840.1:c.7533T>C (ATM)	XP_011541142.1:p.Ile2511=
XM_011542841.1:c.7533T>C (ATM)	XP_011541143.1:p.Ile2511=
XM_011542842.1:c.7368T>C (ATM)	XP_011541144.1:p.Ile2456=
XM_011542843.1:c.7533T>C (ATM)	XP_011541145.1:p.Ile2511=
XM_011542844.1:c.6489T>C (ATM)	XP_011541146.1:p.Ile2163=
XM_011542845.1:c.6225T>C (ATM)	XP_011541147.1:p.Ile2075=
XM_011542847.1:c.2604T>C (ATM)	XP_011541149.1:p.Ile868=
NM_001330368.1:c.641-22390A>G (C11orf65)	NP_001317297.1:n.641-22390A>G
NM_001351110.1:c.*38+3759A>G (C11orf65)	NP_001338039.1:n.*38+3759A>G
NM_001351834.1:c.7533T>C (ATM)	NP_001338763.1:p.Ile2511=
NR_147053.2:n.2481A>G (C11orf65)
XM_005271414.4:c.*145A>G (C11orf65)	XP_005271471.1:n.*145A>G
XM_005271415.4:c.*89A>G (C11orf65)	XP_005271472.1:n.*89A>G
XM_005271562.5:c.7533T>C (ATM)	XP_005271619.2:p.Ile2511=
XM_006718843.4:c.7533T>C (ATM)	XP_006718906.1:p.Ile2511=
XM_006718845.2:c.3489T>C (ATM)	XP_006718908.1:p.Ile1163=
XM_011542840.3:c.7533T>C (ATM)	XP_011541142.1:p.Ile2511=
XM_011542842.3:c.7368T>C (ATM)	XP_011541144.1:p.Ile2456=
XM_011542843.2:c.7533T>C (ATM)	XP_011541145.1:p.Ile2511=
XM_011542844.3:c.6489T>C (ATM)	XP_011541146.1:p.Ile2163=
XM_011542845.2:c.6225T>C (ATM)	XP_011541147.1:p.Ile2075=
XM_017017789.2:c.7533T>C (ATM)	XP_016873278.1:p.Ile2511=
XM_017017790.2:c.7533T>C (ATM)	XP_016873279.1:p.Ile2511=
NM_001330368.2:c.641-22390A>G (C11orf65)	NP_001317297.1:n.641-22390A>G
NM_001351110.2:c.*38+3759A>G (C11orf65)	NP_001338039.1:n.*38+3759A>G
NM_001351834.2:c.7533T>C (ATM)	NP_001338763.1:p.Ile2511=
NM_000051.4:c.7533T>C (ATM) MANE Select	NP_000042.3:p.Ile2511=
NR_147053.3:n.2479A>G (C11orf65)