Canonical Allele Identifier: CA10579315

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 230841
• ClinVar RCV Id: RCV000221292 ; RCV000802642 ; RCV003316210
• dbSNP Id: rs756899044
• gnomAD v4: 11-108353831-G-T
• MyVariant Identifiers: chr11:g.108224558G>T (hg19) ; chr11:g.108353831G>T (hg38)
• PubMed: PMID:21665257 ; PMID:22071889

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353831G>T , CM000673.2:g.108353831G>T	GRCh38
NC_000011.9:g.108224558G>T , CM000673.1:g.108224558G>T	GRCh37
NC_000011.8:g.107729768G>T	NCBI36
NG_009830.1:g.136000G>T , LRG_135:g.136000G>T
NG_054724.1:g.121002C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8737G>T (ATM)	ENSP00000388058.2:p.Asp2913Tyr
ENST00000713593.1:c.*8208G>T (ATM)	ENSP00000518889.1:n.*8208G>T
ENST00000278616.9:c.8737G>T (ATM)	ENSP00000278616.4:p.Asp2913Tyr
ENST00000638786.2:n.1435G>T (ATM)
ENST00000682286.1:n.3494G>T (ATM)
ENST00000682302.1:n.3155G>T (ATM)
ENST00000683174.1:n.10221G>T (ATM)
ENST00000683524.1:n.3961G>T (ATM)
ENST00000684152.1:n.4153G>T (ATM)
ENST00000684180.1:n.1211G>T (ATM)
ENST00000684447.1:n.5230G>T (ATM)
ENST00000527805.6:c.*3801G>T (ATM)	ENSP00000435747.2:n.*3801G>T
ENST00000675595.1:c.*3872G>T (ATM)	ENSP00000502563.1:n.*3872G>T
ENST00000675843.1:c.8737G>T (ATM) MANE Select	ENSP00000501606.1:p.Asp2913Tyr
ENST00000278616.8:c.8737G>T (ATM)	ENSP00000278616.4:p.Asp2913Tyr
ENST00000452508.6:c.8737G>T (ATM)	ENSP00000388058.2:p.Asp2913Tyr
ENST00000524755.5:c.227-18539C>A (C11orf65)
ENST00000524792.5:n.4952G>T (ATM)
ENST00000525178.5:n.225G>T (ATM)
ENST00000525729.5:c.640+32089C>A (C11orf65)	ENSP00000433395.1:n.640+32089C>A
ENST00000526725.1:n.272-13467C>A (C11orf65)
ENST00000527181.1:n.76G>T (ATM)
ENST00000527531.5:c.*1196+1084C>A (C11orf65)	ENSP00000431706.1:n.*1196+1084C>A
ENST00000615746.4:c.*1196+1084C>A (C11orf65)	ENSP00000483537.1:n.*1196+1084C>A
NM_000051.3:c.8737G>T , LRG_135t1:c.8737G>T (ATM)	NP_000042.3:p.Asp2913Tyr
XM_005271414.3:c.788-18539C>A (C11orf65)	XP_005271471.1:n.788-18539C>A
XM_005271415.3:c.732-18539C>A (C11orf65)	XP_005271472.1:n.732-18539C>A
XM_005271561.3:c.8737G>T (ATM)	XP_005271618.2:p.Asp2913Tyr
XM_005271562.3:c.8737G>T (ATM)	XP_005271619.2:p.Asp2913Tyr
XM_006718843.2:c.8737G>T (ATM)	XP_006718906.1:p.Asp2913Tyr
XM_006718845.1:c.4693G>T (ATM)	XP_006718908.1:p.Asp1565Tyr
XM_011542640.1:c.788-13467C>A (C11orf65)	XP_011540942.1:n.788-13467C>A
XM_011542642.1:c.732-4758C>A (C11orf65)	XP_011540944.1:n.732-4758C>A
XM_011542643.1:c.732-13467C>A (C11orf65)	XP_011540945.1:n.732-13467C>A
XM_011542840.1:c.8737G>T (ATM)	XP_011541142.1:p.Asp2913Tyr
XM_011542841.1:c.8737G>T (ATM)	XP_011541143.1:p.Asp2913Tyr
XM_011542842.1:c.8572G>T (ATM)	XP_011541144.1:p.Asp2858Tyr
XM_011542844.1:c.7693G>T (ATM)	XP_011541146.1:p.Asp2565Tyr
XM_011542845.1:c.7429G>T (ATM)	XP_011541147.1:p.Asp2477Tyr
XM_011542847.1:c.3808G>T (ATM)	XP_011541149.1:p.Asp1270Tyr
NM_001330368.1:c.640+32089C>A (C11orf65)	NP_001317297.1:n.640+32089C>A
NM_001351110.1:c.695-18539C>A (C11orf65)	NP_001338039.1:n.695-18539C>A
NM_001351834.1:c.8737G>T (ATM)	NP_001338763.1:p.Asp2913Tyr
NR_147053.2:n.2301+1084C>A (C11orf65)
XM_005271414.4:c.788-18539C>A (C11orf65)	XP_005271471.1:n.788-18539C>A
XM_005271415.4:c.732-18539C>A (C11orf65)	XP_005271472.1:n.732-18539C>A
XM_005271562.5:c.8737G>T (ATM)	XP_005271619.2:p.Asp2913Tyr
XM_006718843.4:c.8737G>T (ATM)	XP_006718906.1:p.Asp2913Tyr
XM_006718845.2:c.4693G>T (ATM)	XP_006718908.1:p.Asp1565Tyr
XM_011542640.2:c.788-13467C>A (C11orf65)	XP_011540942.1:n.788-13467C>A
XM_011542643.2:c.732-13467C>A (C11orf65)	XP_011540945.1:n.732-13467C>A
XM_011542840.3:c.8737G>T (ATM)	XP_011541142.1:p.Asp2913Tyr
XM_011542842.3:c.8572G>T (ATM)	XP_011541144.1:p.Asp2858Tyr
XM_011542844.3:c.7693G>T (ATM)	XP_011541146.1:p.Asp2565Tyr
XM_011542845.2:c.7429G>T (ATM)	XP_011541147.1:p.Asp2477Tyr
XM_017017247.1:c.904-13467C>A (C11orf65)	XP_016872736.1:n.904-13467C>A
XM_017017789.2:c.8737G>T (ATM)	XP_016873278.1:p.Asp2913Tyr
XM_017017790.2:c.8737G>T (ATM)	XP_016873279.1:p.Asp2913Tyr
NM_001330368.2:c.640+32089C>A (C11orf65)	NP_001317297.1:n.640+32089C>A
NM_001351110.2:c.695-18539C>A (C11orf65)	NP_001338039.1:n.695-18539C>A
NM_001351834.2:c.8737G>T (ATM)	NP_001338763.1:p.Asp2913Tyr
NM_000051.4:c.8737G>T (ATM) MANE Select	NP_000042.3:p.Asp2913Tyr
NR_147053.3:n.2299+1084C>A (C11orf65)