Canonical Allele Identifier: CA382532131

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 940747
• ClinVar RCV Id: RCV001210397
• dbSNP Id: rs2091258043
• MyVariant Identifiers: chr11:g.108236211C>A (hg19) ; chr11:g.108365484C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108365484C>A , CM000673.2:g.108365484C>A	GRCh38
NC_000011.9:g.108236211C>A , CM000673.1:g.108236211C>A	GRCh37
NC_000011.8:g.107741421C>A	NCBI36
NG_009830.1:g.147653C>A , LRG_135:g.147653C>A
NG_054724.1:g.109349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.9147C>A (ATM)	ENSP00000388058.2:p.Phe3049Leu
ENST00000713593.1:c.*8618C>A (ATM)	ENSP00000518889.1:n.*8618C>A
ENST00000278616.9:c.9147C>A (ATM)	ENSP00000278616.4:p.Phe3049Leu
ENST00000638786.2:n.1845C>A (ATM)
ENST00000682286.1:n.3904C>A (ATM)
ENST00000682302.1:n.3565C>A (ATM)
ENST00000682569.1:n.2494C>A (ATM)
ENST00000683174.1:n.10631C>A (ATM)
ENST00000683524.1:n.4371C>A (ATM)
ENST00000684152.1:n.4563C>A (ATM)
ENST00000684180.1:n.1621C>A (ATM)
ENST00000684447.1:n.5640C>A (ATM)
ENST00000527805.6:c.*4211C>A (ATM)	ENSP00000435747.2:n.*4211C>A
ENST00000675595.1:c.*4282C>A (ATM)	ENSP00000502563.1:n.*4282C>A
ENST00000675843.1:c.9147C>A (ATM) MANE Select	ENSP00000501606.1:p.Phe3049Leu
ENST00000278616.8:c.9147C>A (ATM)	ENSP00000278616.4:p.Phe3049Leu
ENST00000452508.6:c.9147C>A (ATM)	ENSP00000388058.2:p.Phe3049Leu
ENST00000524755.5:c.226+27724G>T (C11orf65)
ENST00000524792.5:n.5362C>A (ATM)
ENST00000525178.5:n.635C>A (ATM)
ENST00000525729.5:c.640+20436G>T (C11orf65)	ENSP00000433395.1:n.640+20436G>T
ENST00000526725.1:n.272-25120G>T (C11orf65)
ENST00000527181.1:n.486C>A (ATM)
ENST00000527531.5:c.*2-9375G>T (C11orf65)	ENSP00000431706.1:n.*2-9375G>T
ENST00000615746.4:c.*2-9375G>T (C11orf65)	ENSP00000483537.1:n.*2-9375G>T
NM_000051.3:c.9147C>A , LRG_135t1:c.9147C>A (ATM)	NP_000042.3:p.Phe3049Leu
XM_005271414.3:c.787+20436G>T (C11orf65)	XP_005271471.1:n.787+20436G>T
XM_005271415.3:c.731+27724G>T (C11orf65)	XP_005271472.1:n.731+27724G>T
XM_005271561.3:c.9147C>A (ATM)	XP_005271618.2:p.Phe3049Leu
XM_005271562.3:c.9147C>A (ATM)	XP_005271619.2:p.Phe3049Leu
XM_006718843.2:c.9147C>A (ATM)	XP_006718906.1:p.Phe3049Leu
XM_006718845.1:c.5103C>A (ATM)	XP_006718908.1:p.Phe1701Leu
XM_011542640.1:c.787+20436G>T (C11orf65)	XP_011540942.1:n.787+20436G>T
XM_011542642.1:c.732-16411G>T (C11orf65)	XP_011540944.1:n.732-16411G>T
XM_011542643.1:c.732-25120G>T (C11orf65)	XP_011540945.1:n.732-25120G>T
XM_011542840.1:c.9147C>A (ATM)	XP_011541142.1:p.Phe3049Leu
XM_011542841.1:c.9147C>A (ATM)	XP_011541143.1:p.Phe3049Leu
XM_011542842.1:c.8982C>A (ATM)	XP_011541144.1:p.Phe2994Leu
XM_011542844.1:c.8103C>A (ATM)	XP_011541146.1:p.Phe2701Leu
XM_011542845.1:c.7839C>A (ATM)	XP_011541147.1:p.Phe2613Leu
XM_011542847.1:c.4218C>A (ATM)	XP_011541149.1:p.Phe1406Leu
NM_001330368.1:c.640+20436G>T (C11orf65)	NP_001317297.1:n.640+20436G>T
NM_001351110.1:c.694+20436G>T (C11orf65)	NP_001338039.1:n.694+20436G>T
NM_001351834.1:c.9147C>A (ATM)	NP_001338763.1:p.Phe3049Leu
NR_147053.2:n.1107-9375G>T (C11orf65)
XM_005271414.4:c.787+20436G>T (C11orf65)	XP_005271471.1:n.787+20436G>T
XM_005271415.4:c.731+27724G>T (C11orf65)	XP_005271472.1:n.731+27724G>T
XM_005271562.5:c.9147C>A (ATM)	XP_005271619.2:p.Phe3049Leu
XM_006718843.4:c.9147C>A (ATM)	XP_006718906.1:p.Phe3049Leu
XM_006718845.2:c.5103C>A (ATM)	XP_006718908.1:p.Phe1701Leu
XM_011542640.2:c.787+20436G>T (C11orf65)	XP_011540942.1:n.787+20436G>T
XM_011542643.2:c.732-25120G>T (C11orf65)	XP_011540945.1:n.732-25120G>T
XM_011542840.3:c.9147C>A (ATM)	XP_011541142.1:p.Phe3049Leu
XM_011542842.3:c.8982C>A (ATM)	XP_011541144.1:p.Phe2994Leu
XM_011542844.3:c.8103C>A (ATM)	XP_011541146.1:p.Phe2701Leu
XM_011542845.2:c.7839C>A (ATM)	XP_011541147.1:p.Phe2613Leu
XM_017017247.1:c.903+17576G>T (C11orf65)	XP_016872736.1:n.903+17576G>T
XM_017017789.2:c.9147C>A (ATM)	XP_016873278.1:p.Phe3049Leu
XM_017017790.2:c.9147C>A (ATM)	XP_016873279.1:p.Phe3049Leu
NM_001330368.2:c.640+20436G>T (C11orf65)	NP_001317297.1:n.640+20436G>T
NM_001351110.2:c.694+20436G>T (C11orf65)	NP_001338039.1:n.694+20436G>T
NM_001351834.2:c.9147C>A (ATM)	NP_001338763.1:p.Phe3049Leu
NM_000051.4:c.9147C>A (ATM) MANE Select	NP_000042.3:p.Phe3049Leu
NR_147053.3:n.1105-9375G>T (C11orf65)