Canonical Allele Identifier: CA382554668

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 482673
• ClinVar RCV Id: RCV000571629 ; RCV000576576 ; RCV004024499
• dbSNP Id: rs1555119011
• MyVariant Identifiers: chr11:g.108196050A>T (hg19) ; chr11:g.108325323A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325323A>T , CM000673.2:g.108325323A>T	GRCh38
NC_000011.9:g.108196050A>T , CM000673.1:g.108196050A>T	GRCh37
NC_000011.8:g.107701260A>T	NCBI36
NG_009830.1:g.107492A>T , LRG_135:g.107492A>T
NG_054724.1:g.149510T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6586A>T (ATM)	ENSP00000388058.2:p.Arg2196Ter
ENST00000713593.1:c.*6057A>T (ATM)	ENSP00000518889.1:n.*6057A>T
ENST00000278616.9:c.6586A>T (ATM)	ENSP00000278616.4:p.Arg2196Ter
ENST00000525056.2:n.1005A>T (ATM)
ENST00000682286.1:n.1343A>T (ATM)
ENST00000682302.1:n.1004A>T (ATM)
ENST00000683174.1:n.8070A>T (ATM)
ENST00000683524.1:n.1810A>T (ATM)
ENST00000684152.1:n.2300A>T (ATM)
ENST00000527805.6:c.*1650A>T (ATM)	ENSP00000435747.2:n.*1650A>T
ENST00000675595.1:c.*1721A>T (ATM)	ENSP00000502563.1:n.*1721A>T
ENST00000675843.1:c.6586A>T (ATM) MANE Select	ENSP00000501606.1:p.Arg2196Ter
ENST00000278616.8:c.6586A>T (ATM)	ENSP00000278616.4:p.Arg2196Ter
ENST00000452508.6:c.6586A>T (ATM)	ENSP00000388058.2:p.Arg2196Ter
ENST00000524792.5:n.2801A>T (ATM)
ENST00000525729.5:c.641-16252T>A (C11orf65)	ENSP00000433395.1:n.641-16252T>A
ENST00000533690.5:n.1990A>T (ATM)
NM_000051.3:c.6586A>T , LRG_135t1:c.6586A>T (ATM)	NP_000042.3:p.Arg2196Ter
XM_005271561.3:c.6586A>T (ATM)	XP_005271618.2:p.Arg2196Ter
XM_005271562.3:c.6586A>T (ATM)	XP_005271619.2:p.Arg2196Ter
XM_006718843.2:c.6586A>T (ATM)	XP_006718906.1:p.Arg2196Ter
XM_006718845.1:c.2542A>T (ATM)	XP_006718908.1:p.Arg848Ter
XM_011542840.1:c.6586A>T (ATM)	XP_011541142.1:p.Arg2196Ter
XM_011542841.1:c.6586A>T (ATM)	XP_011541143.1:p.Arg2196Ter
XM_011542842.1:c.6421A>T (ATM)	XP_011541144.1:p.Arg2141Ter
XM_011542843.1:c.6586A>T (ATM)	XP_011541145.1:p.Arg2196Ter
XM_011542844.1:c.5542A>T (ATM)	XP_011541146.1:p.Arg1848Ter
XM_011542845.1:c.5278A>T (ATM)	XP_011541147.1:p.Arg1760Ter
XM_011542847.1:c.1657A>T (ATM)	XP_011541149.1:p.Arg553Ter
NM_001330368.1:c.641-16252T>A (C11orf65)	NP_001317297.1:n.641-16252T>A
NM_001351110.1:c.*38+9897T>A (C11orf65)	NP_001338039.1:n.*38+9897T>A
NM_001351834.1:c.6586A>T (ATM)	NP_001338763.1:p.Arg2196Ter
XM_005271562.5:c.6586A>T (ATM)	XP_005271619.2:p.Arg2196Ter
XM_006718843.4:c.6586A>T (ATM)	XP_006718906.1:p.Arg2196Ter
XM_006718845.2:c.2542A>T (ATM)	XP_006718908.1:p.Arg848Ter
XM_011542840.3:c.6586A>T (ATM)	XP_011541142.1:p.Arg2196Ter
XM_011542842.3:c.6421A>T (ATM)	XP_011541144.1:p.Arg2141Ter
XM_011542843.2:c.6586A>T (ATM)	XP_011541145.1:p.Arg2196Ter
XM_011542844.3:c.5542A>T (ATM)	XP_011541146.1:p.Arg1848Ter
XM_011542845.2:c.5278A>T (ATM)	XP_011541147.1:p.Arg1760Ter
XM_017017789.2:c.6586A>T (ATM)	XP_016873278.1:p.Arg2196Ter
XM_017017790.2:c.6586A>T (ATM)	XP_016873279.1:p.Arg2196Ter
NM_001330368.2:c.641-16252T>A (C11orf65)	NP_001317297.1:n.641-16252T>A
NM_001351110.2:c.*38+9897T>A (C11orf65)	NP_001338039.1:n.*38+9897T>A
NM_001351834.2:c.6586A>T (ATM)	NP_001338763.1:p.Arg2196Ter
NM_000051.4:c.6586A>T (ATM) MANE Select	NP_000042.3:p.Arg2196Ter