Canonical Allele Identifier: CA382556808

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1003804
• ClinVar RCV Id: RCV001300409 ; RCV002366133 ; RCV003482360
• dbSNP Id: rs1450429233
• MyVariant Identifiers: chr11:g.108196855T>C (hg19) ; chr11:g.108326128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326128T>C , CM000673.2:g.108326128T>C	GRCh38
NC_000011.9:g.108196855T>C , CM000673.1:g.108196855T>C	GRCh37
NC_000011.8:g.107702065T>C	NCBI36
NG_009830.1:g.108297T>C , LRG_135:g.108297T>C
NG_054724.1:g.148705A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6878T>C (ATM)	ENSP00000388058.2:p.Leu2293Pro
ENST00000713593.1:c.*6349T>C (ATM)	ENSP00000518889.1:n.*6349T>C
ENST00000278616.9:c.6878T>C (ATM)	ENSP00000278616.4:p.Leu2293Pro
ENST00000525056.2:n.1297T>C (ATM)
ENST00000682286.1:n.1635T>C (ATM)
ENST00000682302.1:n.1296T>C (ATM)
ENST00000683174.1:n.8362T>C (ATM)
ENST00000683524.1:n.2102T>C (ATM)
ENST00000684152.1:n.2592T>C (ATM)
ENST00000527805.6:c.*1942T>C (ATM)	ENSP00000435747.2:n.*1942T>C
ENST00000675595.1:c.*2013T>C (ATM)	ENSP00000502563.1:n.*2013T>C
ENST00000675843.1:c.6878T>C (ATM) MANE Select	ENSP00000501606.1:p.Leu2293Pro
ENST00000278616.8:c.6878T>C (ATM)	ENSP00000278616.4:p.Leu2293Pro
ENST00000452508.6:c.6878T>C (ATM)	ENSP00000388058.2:p.Leu2293Pro
ENST00000524792.5:n.3093T>C (ATM)
ENST00000525729.5:c.641-17057A>G (C11orf65)	ENSP00000433395.1:n.641-17057A>G
ENST00000533690.5:n.2282T>C (ATM)
NM_000051.3:c.6878T>C , LRG_135t1:c.6878T>C (ATM)	NP_000042.3:p.Leu2293Pro
XM_005271561.3:c.6878T>C (ATM)	XP_005271618.2:p.Leu2293Pro
XM_005271562.3:c.6878T>C (ATM)	XP_005271619.2:p.Leu2293Pro
XM_006718843.2:c.6878T>C (ATM)	XP_006718906.1:p.Leu2293Pro
XM_006718845.1:c.2834T>C (ATM)	XP_006718908.1:p.Leu945Pro
XM_011542840.1:c.6878T>C (ATM)	XP_011541142.1:p.Leu2293Pro
XM_011542841.1:c.6878T>C (ATM)	XP_011541143.1:p.Leu2293Pro
XM_011542842.1:c.6713T>C (ATM)	XP_011541144.1:p.Leu2238Pro
XM_011542843.1:c.6878T>C (ATM)	XP_011541145.1:p.Leu2293Pro
XM_011542844.1:c.5834T>C (ATM)	XP_011541146.1:p.Leu1945Pro
XM_011542845.1:c.5570T>C (ATM)	XP_011541147.1:p.Leu1857Pro
XM_011542847.1:c.1949T>C (ATM)	XP_011541149.1:p.Leu650Pro
NM_001330368.1:c.641-17057A>G (C11orf65)	NP_001317297.1:n.641-17057A>G
NM_001351110.1:c.*38+9092A>G (C11orf65)	NP_001338039.1:n.*38+9092A>G
NM_001351834.1:c.6878T>C (ATM)	NP_001338763.1:p.Leu2293Pro
XM_005271562.5:c.6878T>C (ATM)	XP_005271619.2:p.Leu2293Pro
XM_006718843.4:c.6878T>C (ATM)	XP_006718906.1:p.Leu2293Pro
XM_006718845.2:c.2834T>C (ATM)	XP_006718908.1:p.Leu945Pro
XM_011542840.3:c.6878T>C (ATM)	XP_011541142.1:p.Leu2293Pro
XM_011542842.3:c.6713T>C (ATM)	XP_011541144.1:p.Leu2238Pro
XM_011542843.2:c.6878T>C (ATM)	XP_011541145.1:p.Leu2293Pro
XM_011542844.3:c.5834T>C (ATM)	XP_011541146.1:p.Leu1945Pro
XM_011542845.2:c.5570T>C (ATM)	XP_011541147.1:p.Leu1857Pro
XM_017017789.2:c.6878T>C (ATM)	XP_016873278.1:p.Leu2293Pro
XM_017017790.2:c.6878T>C (ATM)	XP_016873279.1:p.Leu2293Pro
NM_001330368.2:c.641-17057A>G (C11orf65)	NP_001317297.1:n.641-17057A>G
NM_001351110.2:c.*38+9092A>G (C11orf65)	NP_001338039.1:n.*38+9092A>G
NM_001351834.2:c.6878T>C (ATM)	NP_001338763.1:p.Leu2293Pro
NM_000051.4:c.6878T>C (ATM) MANE Select	NP_000042.3:p.Leu2293Pro