Canonical Allele Identifier: CA10579288

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 234233
• ClinVar RCV Id: RCV000219301 ; RCV000979478 ; RCV003320462
• dbSNP Id: rs876660946
• gnomAD v4: 11-108335904-A-T
• MyVariant Identifiers: chr11:g.108206631A>T (hg19) ; chr11:g.108335904A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335904A>T , CM000673.2:g.108335904A>T	GRCh38
NC_000011.9:g.108206631A>T , CM000673.1:g.108206631A>T	GRCh37
NC_000011.8:g.107711841A>T	NCBI36
NG_009830.1:g.118073A>T , LRG_135:g.118073A>T
NG_054724.1:g.138929T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8211A>T (ATM)	ENSP00000388058.2:p.Thr2737=
ENST00000713593.1:c.*7682A>T (ATM)	ENSP00000518889.1:n.*7682A>T
ENST00000278616.9:c.8211A>T (ATM)	ENSP00000278616.4:p.Thr2737=
ENST00000525056.2:n.2630A>T (ATM)
ENST00000638786.2:n.909A>T (ATM)
ENST00000682286.1:n.2968A>T (ATM)
ENST00000682302.1:n.2629A>T (ATM)
ENST00000683174.1:n.9695A>T (ATM)
ENST00000683524.1:n.3435A>T (ATM)
ENST00000684152.1:n.3627A>T (ATM)
ENST00000684180.1:n.685A>T (ATM)
ENST00000684447.1:n.4704A>T (ATM)
ENST00000527805.6:c.*3275A>T (ATM)	ENSP00000435747.2:n.*3275A>T
ENST00000675595.1:c.*3346A>T (ATM)	ENSP00000502563.1:n.*3346A>T
ENST00000675843.1:c.8211A>T (ATM) MANE Select	ENSP00000501606.1:p.Thr2737=
ENST00000278616.8:c.8211A>T (ATM)	ENSP00000278616.4:p.Thr2737=
ENST00000452508.6:c.8211A>T (ATM)	ENSP00000388058.2:p.Thr2737=
ENST00000524755.5:c.227-612T>A (C11orf65)
ENST00000524792.5:n.4426A>T (ATM)
ENST00000525056.1:n.408A>T (ATM)
ENST00000525729.5:c.641-26833T>A (C11orf65)	ENSP00000433395.1:n.641-26833T>A
ENST00000527531.5:c.*1197-612T>A (C11orf65)	ENSP00000431706.1:n.*1197-612T>A
ENST00000533979.5:n.423A>T (ATM)
ENST00000615746.4:c.*1197-612T>A (C11orf65)	ENSP00000483537.1:n.*1197-612T>A
NM_000051.3:c.8211A>T , LRG_135t1:c.8211A>T (ATM)	NP_000042.3:p.Thr2737=
XM_005271414.3:c.788-612T>A (C11orf65)	XP_005271471.1:n.788-612T>A
XM_005271415.3:c.732-612T>A (C11orf65)	XP_005271472.1:n.732-612T>A
XM_005271561.3:c.8211A>T (ATM)	XP_005271618.2:p.Thr2737=
XM_005271562.3:c.8211A>T (ATM)	XP_005271619.2:p.Thr2737=
XM_006718843.2:c.8211A>T (ATM)	XP_006718906.1:p.Thr2737=
XM_006718845.1:c.4167A>T (ATM)	XP_006718908.1:p.Thr1389=
XM_011542840.1:c.8211A>T (ATM)	XP_011541142.1:p.Thr2737=
XM_011542841.1:c.8211A>T (ATM)	XP_011541143.1:p.Thr2737=
XM_011542842.1:c.8046A>T (ATM)	XP_011541144.1:p.Thr2682=
XM_011542843.1:c.8211A>T (ATM)	XP_011541145.1:p.Thr2737=
XM_011542844.1:c.7167A>T (ATM)	XP_011541146.1:p.Thr2389=
XM_011542845.1:c.6903A>T (ATM)	XP_011541147.1:p.Thr2301=
XM_011542847.1:c.3282A>T (ATM)	XP_011541149.1:p.Thr1094=
NM_001330368.1:c.641-26833T>A (C11orf65)	NP_001317297.1:n.641-26833T>A
NM_001351110.1:c.695-612T>A (C11orf65)	NP_001338039.1:n.695-612T>A
NM_001351834.1:c.8211A>T (ATM)	NP_001338763.1:p.Thr2737=
NR_147053.2:n.2302-612T>A (C11orf65)
XM_005271414.4:c.788-612T>A (C11orf65)	XP_005271471.1:n.788-612T>A
XM_005271415.4:c.732-612T>A (C11orf65)	XP_005271472.1:n.732-612T>A
XM_005271562.5:c.8211A>T (ATM)	XP_005271619.2:p.Thr2737=
XM_006718843.4:c.8211A>T (ATM)	XP_006718906.1:p.Thr2737=
XM_006718845.2:c.4167A>T (ATM)	XP_006718908.1:p.Thr1389=
XM_011542840.3:c.8211A>T (ATM)	XP_011541142.1:p.Thr2737=
XM_011542842.3:c.8046A>T (ATM)	XP_011541144.1:p.Thr2682=
XM_011542843.2:c.8211A>T (ATM)	XP_011541145.1:p.Thr2737=
XM_011542844.3:c.7167A>T (ATM)	XP_011541146.1:p.Thr2389=
XM_011542845.2:c.6903A>T (ATM)	XP_011541147.1:p.Thr2301=
XM_017017789.2:c.8211A>T (ATM)	XP_016873278.1:p.Thr2737=
XM_017017790.2:c.8211A>T (ATM)	XP_016873279.1:p.Thr2737=
NM_001330368.2:c.641-26833T>A (C11orf65)	NP_001317297.1:n.641-26833T>A
NM_001351110.2:c.695-612T>A (C11orf65)	NP_001338039.1:n.695-612T>A
NM_001351834.2:c.8211A>T (ATM)	NP_001338763.1:p.Thr2737=
NM_000051.4:c.8211A>T (ATM) MANE Select	NP_000042.3:p.Thr2737=
NR_147053.3:n.2300-612T>A (C11orf65)