Canonical Allele Identifier: CA382523677

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2575316
• ClinVar RCV Id: RCV003320505
• dbSNP Id: rs2089496713
• MyVariant Identifiers: chr11:g.108224519C>G (hg19) ; chr11:g.108353792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353792C>G , CM000673.2:g.108353792C>G	GRCh38
NC_000011.9:g.108224519C>G , CM000673.1:g.108224519C>G	GRCh37
NC_000011.8:g.107729729C>G	NCBI36
NG_009830.1:g.135961C>G , LRG_135:g.135961C>G
NG_054724.1:g.121041G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8698C>G (ATM)	ENSP00000388058.2:p.Leu2900Val
ENST00000713593.1:c.*8169C>G (ATM)	ENSP00000518889.1:n.*8169C>G
ENST00000278616.9:c.8698C>G (ATM)	ENSP00000278616.4:p.Leu2900Val
ENST00000638786.2:n.1396C>G (ATM)
ENST00000682286.1:n.3455C>G (ATM)
ENST00000682302.1:n.3116C>G (ATM)
ENST00000683174.1:n.10182C>G (ATM)
ENST00000683524.1:n.3922C>G (ATM)
ENST00000684152.1:n.4114C>G (ATM)
ENST00000684180.1:n.1172C>G (ATM)
ENST00000684447.1:n.5191C>G (ATM)
ENST00000527805.6:c.*3762C>G (ATM)	ENSP00000435747.2:n.*3762C>G
ENST00000675595.1:c.*3833C>G (ATM)	ENSP00000502563.1:n.*3833C>G
ENST00000675843.1:c.8698C>G (ATM) MANE Select	ENSP00000501606.1:p.Leu2900Val
ENST00000278616.8:c.8698C>G (ATM)	ENSP00000278616.4:p.Leu2900Val
ENST00000452508.6:c.8698C>G (ATM)	ENSP00000388058.2:p.Leu2900Val
ENST00000524755.5:c.227-18500G>C (C11orf65)
ENST00000524792.5:n.4913C>G (ATM)
ENST00000525178.5:n.186C>G (ATM)
ENST00000525729.5:c.640+32128G>C (C11orf65)	ENSP00000433395.1:n.640+32128G>C
ENST00000526725.1:n.272-13428G>C (C11orf65)
ENST00000527181.1:n.37C>G (ATM)
ENST00000527531.5:c.*1196+1123G>C (C11orf65)	ENSP00000431706.1:n.*1196+1123G>C
ENST00000615746.4:c.*1196+1123G>C (C11orf65)	ENSP00000483537.1:n.*1196+1123G>C
NM_000051.3:c.8698C>G , LRG_135t1:c.8698C>G (ATM)	NP_000042.3:p.Leu2900Val
XM_005271414.3:c.788-18500G>C (C11orf65)	XP_005271471.1:n.788-18500G>C
XM_005271415.3:c.732-18500G>C (C11orf65)	XP_005271472.1:n.732-18500G>C
XM_005271561.3:c.8698C>G (ATM)	XP_005271618.2:p.Leu2900Val
XM_005271562.3:c.8698C>G (ATM)	XP_005271619.2:p.Leu2900Val
XM_006718843.2:c.8698C>G (ATM)	XP_006718906.1:p.Leu2900Val
XM_006718845.1:c.4654C>G (ATM)	XP_006718908.1:p.Leu1552Val
XM_011542640.1:c.788-13428G>C (C11orf65)	XP_011540942.1:n.788-13428G>C
XM_011542642.1:c.732-4719G>C (C11orf65)	XP_011540944.1:n.732-4719G>C
XM_011542643.1:c.732-13428G>C (C11orf65)	XP_011540945.1:n.732-13428G>C
XM_011542840.1:c.8698C>G (ATM)	XP_011541142.1:p.Leu2900Val
XM_011542841.1:c.8698C>G (ATM)	XP_011541143.1:p.Leu2900Val
XM_011542842.1:c.8533C>G (ATM)	XP_011541144.1:p.Leu2845Val
XM_011542844.1:c.7654C>G (ATM)	XP_011541146.1:p.Leu2552Val
XM_011542845.1:c.7390C>G (ATM)	XP_011541147.1:p.Leu2464Val
XM_011542847.1:c.3769C>G (ATM)	XP_011541149.1:p.Leu1257Val
NM_001330368.1:c.640+32128G>C (C11orf65)	NP_001317297.1:n.640+32128G>C
NM_001351110.1:c.695-18500G>C (C11orf65)	NP_001338039.1:n.695-18500G>C
NM_001351834.1:c.8698C>G (ATM)	NP_001338763.1:p.Leu2900Val
NR_147053.2:n.2301+1123G>C (C11orf65)
XM_005271414.4:c.788-18500G>C (C11orf65)	XP_005271471.1:n.788-18500G>C
XM_005271415.4:c.732-18500G>C (C11orf65)	XP_005271472.1:n.732-18500G>C
XM_005271562.5:c.8698C>G (ATM)	XP_005271619.2:p.Leu2900Val
XM_006718843.4:c.8698C>G (ATM)	XP_006718906.1:p.Leu2900Val
XM_006718845.2:c.4654C>G (ATM)	XP_006718908.1:p.Leu1552Val
XM_011542640.2:c.788-13428G>C (C11orf65)	XP_011540942.1:n.788-13428G>C
XM_011542643.2:c.732-13428G>C (C11orf65)	XP_011540945.1:n.732-13428G>C
XM_011542840.3:c.8698C>G (ATM)	XP_011541142.1:p.Leu2900Val
XM_011542842.3:c.8533C>G (ATM)	XP_011541144.1:p.Leu2845Val
XM_011542844.3:c.7654C>G (ATM)	XP_011541146.1:p.Leu2552Val
XM_011542845.2:c.7390C>G (ATM)	XP_011541147.1:p.Leu2464Val
XM_017017247.1:c.904-13428G>C (C11orf65)	XP_016872736.1:n.904-13428G>C
XM_017017789.2:c.8698C>G (ATM)	XP_016873278.1:p.Leu2900Val
XM_017017790.2:c.8698C>G (ATM)	XP_016873279.1:p.Leu2900Val
NM_001330368.2:c.640+32128G>C (C11orf65)	NP_001317297.1:n.640+32128G>C
NM_001351110.2:c.695-18500G>C (C11orf65)	NP_001338039.1:n.695-18500G>C
NM_001351834.2:c.8698C>G (ATM)	NP_001338763.1:p.Leu2900Val
NM_000051.4:c.8698C>G (ATM) MANE Select	NP_000042.3:p.Leu2900Val
NR_147053.3:n.2299+1123G>C (C11orf65)