Canonical Allele Identifier: CA10582852

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 236773
• ClinVar RCV Id: RCV000228986 ; RCV001026398
• dbSNP Id: rs878853544
• gnomAD v4: 11-108330315-A-G
• MyVariant Identifiers: chr11:g.108201042A>G (hg19) ; chr11:g.108330315A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330315A>G , CM000673.2:g.108330315A>G	GRCh38
NC_000011.9:g.108201042A>G , CM000673.1:g.108201042A>G	GRCh37
NC_000011.8:g.107706252A>G	NCBI36
NG_009830.1:g.112484A>G , LRG_135:g.112484A>G
NG_054724.1:g.144518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7409A>G (ATM)	ENSP00000388058.2:p.Tyr2470Cys
ENST00000713593.1:c.*6880A>G (ATM)	ENSP00000518889.1:n.*6880A>G
ENST00000278616.9:c.7409A>G (ATM)	ENSP00000278616.4:p.Tyr2470Cys
ENST00000525056.2:n.1828A>G (ATM)
ENST00000525537.3:n.366A>G (ATM)
ENST00000638786.2:n.246A>G (ATM)
ENST00000682286.1:n.2166A>G (ATM)
ENST00000682302.1:n.1827A>G (ATM)
ENST00000683174.1:n.8893A>G (ATM)
ENST00000683524.1:n.2633A>G (ATM)
ENST00000684152.1:n.3123A>G (ATM)
ENST00000684447.1:n.1872A>G (ATM)
ENST00000527805.6:c.*2473A>G (ATM)	ENSP00000435747.2:n.*2473A>G
ENST00000675595.1:c.*2544A>G (ATM)	ENSP00000502563.1:n.*2544A>G
ENST00000675843.1:c.7409A>G (ATM) MANE Select	ENSP00000501606.1:p.Tyr2470Cys
ENST00000278616.8:c.7409A>G (ATM)	ENSP00000278616.4:p.Tyr2470Cys
ENST00000452508.6:c.7409A>G (ATM)	ENSP00000388058.2:p.Tyr2470Cys
ENST00000524792.5:n.3624A>G (ATM)
ENST00000525729.5:c.641-21244T>C (C11orf65)	ENSP00000433395.1:n.641-21244T>C
ENST00000533690.5:n.2813A>G (ATM)
NM_000051.3:c.7409A>G , LRG_135t1:c.7409A>G (ATM)	NP_000042.3:p.Tyr2470Cys
XM_005271561.3:c.7409A>G (ATM)	XP_005271618.2:p.Tyr2470Cys
XM_005271562.3:c.7409A>G (ATM)	XP_005271619.2:p.Tyr2470Cys
XM_006718843.2:c.7409A>G (ATM)	XP_006718906.1:p.Tyr2470Cys
XM_006718845.1:c.3365A>G (ATM)	XP_006718908.1:p.Tyr1122Cys
XM_011542840.1:c.7409A>G (ATM)	XP_011541142.1:p.Tyr2470Cys
XM_011542841.1:c.7409A>G (ATM)	XP_011541143.1:p.Tyr2470Cys
XM_011542842.1:c.7244A>G (ATM)	XP_011541144.1:p.Tyr2415Cys
XM_011542843.1:c.7409A>G (ATM)	XP_011541145.1:p.Tyr2470Cys
XM_011542844.1:c.6365A>G (ATM)	XP_011541146.1:p.Tyr2122Cys
XM_011542845.1:c.6101A>G (ATM)	XP_011541147.1:p.Tyr2034Cys
XM_011542847.1:c.2480A>G (ATM)	XP_011541149.1:p.Tyr827Cys
NM_001330368.1:c.641-21244T>C (C11orf65)	NP_001317297.1:n.641-21244T>C
NM_001351110.1:c.*38+4905T>C (C11orf65)	NP_001338039.1:n.*38+4905T>C
NM_001351834.1:c.7409A>G (ATM)	NP_001338763.1:p.Tyr2470Cys
XM_005271562.5:c.7409A>G (ATM)	XP_005271619.2:p.Tyr2470Cys
XM_006718843.4:c.7409A>G (ATM)	XP_006718906.1:p.Tyr2470Cys
XM_006718845.2:c.3365A>G (ATM)	XP_006718908.1:p.Tyr1122Cys
XM_011542840.3:c.7409A>G (ATM)	XP_011541142.1:p.Tyr2470Cys
XM_011542842.3:c.7244A>G (ATM)	XP_011541144.1:p.Tyr2415Cys
XM_011542843.2:c.7409A>G (ATM)	XP_011541145.1:p.Tyr2470Cys
XM_011542844.3:c.6365A>G (ATM)	XP_011541146.1:p.Tyr2122Cys
XM_011542845.2:c.6101A>G (ATM)	XP_011541147.1:p.Tyr2034Cys
XM_017017789.2:c.7409A>G (ATM)	XP_016873278.1:p.Tyr2470Cys
XM_017017790.2:c.7409A>G (ATM)	XP_016873279.1:p.Tyr2470Cys
NM_001330368.2:c.641-21244T>C (C11orf65)	NP_001317297.1:n.641-21244T>C
NM_001351110.2:c.*38+4905T>C (C11orf65)	NP_001338039.1:n.*38+4905T>C
NM_001351834.2:c.7409A>G (ATM)	NP_001338763.1:p.Tyr2470Cys
NM_000051.4:c.7409A>G (ATM) MANE Select	NP_000042.3:p.Tyr2470Cys