Canonical Allele Identifier: CA382560836

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2136498299
• MyVariant Identifiers: chr11:g.108202267C>G (hg19) ; chr11:g.108331540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331540C>G , CM000673.2:g.108331540C>G	GRCh38
NC_000011.9:g.108202267C>G , CM000673.1:g.108202267C>G	GRCh37
NC_000011.8:g.107707477C>G	NCBI36
NG_009830.1:g.113709C>G , LRG_135:g.113709C>G
NG_054724.1:g.143293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7612C>G (ATM)	ENSP00000388058.2:p.His2538Asp
ENST00000713593.1:c.*7083C>G (ATM)	ENSP00000518889.1:n.*7083C>G
ENST00000278616.9:c.7612C>G (ATM)	ENSP00000278616.4:p.His2538Asp
ENST00000525056.2:n.2031C>G (ATM)
ENST00000525537.3:n.569C>G (ATM)
ENST00000638786.2:n.449C>G (ATM)
ENST00000682286.1:n.2369C>G (ATM)
ENST00000682302.1:n.2030C>G (ATM)
ENST00000683174.1:n.9096C>G (ATM)
ENST00000683524.1:n.2836C>G (ATM)
ENST00000684152.1:n.3326C>G (ATM)
ENST00000684447.1:n.2075C>G (ATM)
ENST00000527805.6:c.*2676C>G (ATM)	ENSP00000435747.2:n.*2676C>G
ENST00000675595.1:c.*2747C>G (ATM)	ENSP00000502563.1:n.*2747C>G
ENST00000675843.1:c.7612C>G (ATM) MANE Select	ENSP00000501606.1:p.His2538Asp
ENST00000278616.8:c.7612C>G (ATM)	ENSP00000278616.4:p.His2538Asp
ENST00000452508.6:c.7612C>G (ATM)	ENSP00000388058.2:p.His2538Asp
ENST00000524755.5:c.327G>C (C11orf65)
ENST00000524792.5:n.3827C>G (ATM)
ENST00000525729.5:c.641-22469G>C (C11orf65)	ENSP00000433395.1:n.641-22469G>C
ENST00000527531.5:c.*1297G>C (C11orf65)	ENSP00000431706.1:n.*1297G>C
ENST00000533690.5:n.3016C>G (ATM)
ENST00000615746.4:c.*1297G>C (C11orf65)	ENSP00000483537.1:n.*1297G>C
NM_000051.3:c.7612C>G , LRG_135t1:c.7612C>G (ATM)	NP_000042.3:p.His2538Asp
XM_005271414.3:c.*66G>C (C11orf65)	XP_005271471.1:n.*66G>C
XM_005271415.3:c.*10G>C (C11orf65)	XP_005271472.1:n.*10G>C
XM_005271561.3:c.7612C>G (ATM)	XP_005271618.2:p.His2538Asp
XM_005271562.3:c.7612C>G (ATM)	XP_005271619.2:p.His2538Asp
XM_006718843.2:c.7612C>G (ATM)	XP_006718906.1:p.His2538Asp
XM_006718845.1:c.3568C>G (ATM)	XP_006718908.1:p.His1190Asp
XM_011542840.1:c.7612C>G (ATM)	XP_011541142.1:p.His2538Asp
XM_011542841.1:c.7612C>G (ATM)	XP_011541143.1:p.His2538Asp
XM_011542842.1:c.7447C>G (ATM)	XP_011541144.1:p.His2483Asp
XM_011542843.1:c.7612C>G (ATM)	XP_011541145.1:p.His2538Asp
XM_011542844.1:c.6568C>G (ATM)	XP_011541146.1:p.His2190Asp
XM_011542845.1:c.6304C>G (ATM)	XP_011541147.1:p.His2102Asp
XM_011542847.1:c.2683C>G (ATM)	XP_011541149.1:p.His895Asp
NM_001330368.1:c.641-22469G>C (C11orf65)	NP_001317297.1:n.641-22469G>C
NM_001351110.1:c.*38+3680G>C (C11orf65)	NP_001338039.1:n.*38+3680G>C
NM_001351834.1:c.7612C>G (ATM)	NP_001338763.1:p.His2538Asp
NR_147053.2:n.2402G>C (C11orf65)
XM_005271414.4:c.*66G>C (C11orf65)	XP_005271471.1:n.*66G>C
XM_005271415.4:c.*10G>C (C11orf65)	XP_005271472.1:n.*10G>C
XM_005271562.5:c.7612C>G (ATM)	XP_005271619.2:p.His2538Asp
XM_006718843.4:c.7612C>G (ATM)	XP_006718906.1:p.His2538Asp
XM_006718845.2:c.3568C>G (ATM)	XP_006718908.1:p.His1190Asp
XM_011542840.3:c.7612C>G (ATM)	XP_011541142.1:p.His2538Asp
XM_011542842.3:c.7447C>G (ATM)	XP_011541144.1:p.His2483Asp
XM_011542843.2:c.7612C>G (ATM)	XP_011541145.1:p.His2538Asp
XM_011542844.3:c.6568C>G (ATM)	XP_011541146.1:p.His2190Asp
XM_011542845.2:c.6304C>G (ATM)	XP_011541147.1:p.His2102Asp
XM_017017789.2:c.7612C>G (ATM)	XP_016873278.1:p.His2538Asp
XM_017017790.2:c.7612C>G (ATM)	XP_016873279.1:p.His2538Asp
NM_001330368.2:c.641-22469G>C (C11orf65)	NP_001317297.1:n.641-22469G>C
NM_001351110.2:c.*38+3680G>C (C11orf65)	NP_001338039.1:n.*38+3680G>C
NM_001351834.2:c.7612C>G (ATM)	NP_001338763.1:p.His2538Asp
NM_000051.4:c.7612C>G (ATM) MANE Select	NP_000042.3:p.His2538Asp
NR_147053.3:n.2400G>C (C11orf65)