Canonical Allele Identifier: CA16041420

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 371405
• ClinVar RCV Id: RCV000412041 ; RCV000657612 ; RCV000775840 ; RCV002272219 ; RCV003150193
• dbSNP Id: rs375783941
• MyVariant Identifiers: chr11:g.108186583G>T (hg19) ; chr11:g.108315856G>T (hg38)
• PubMed: PMID:9887333

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315856G>T , CM000673.2:g.108315856G>T	GRCh38
NC_000011.9:g.108186583G>T , CM000673.1:g.108186583G>T	GRCh37
NC_000011.8:g.107691793G>T	NCBI36
NG_009830.1:g.98025G>T , LRG_135:g.98025G>T
NG_054724.1:g.158977C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6040G>T (ATM)	ENSP00000388058.2:p.Glu2014Ter
ENST00000713593.1:c.*5511G>T (ATM)	ENSP00000518889.1:n.*5511G>T
ENST00000278616.9:c.6040G>T (ATM)	ENSP00000278616.4:p.Glu2014Ter
ENST00000525056.2:n.459G>T (ATM)
ENST00000682286.1:n.797G>T (ATM)
ENST00000682302.1:n.458G>T (ATM)
ENST00000683174.1:n.7524G>T (ATM)
ENST00000683524.1:n.1264G>T (ATM)
ENST00000684152.1:n.1754G>T (ATM)
ENST00000527805.6:c.*1104G>T (ATM)	ENSP00000435747.2:n.*1104G>T
ENST00000675595.1:c.*1104G>T (ATM)	ENSP00000502563.1:n.*1104G>T
ENST00000675843.1:c.6040G>T (ATM) MANE Select	ENSP00000501606.1:p.Glu2014Ter
ENST00000278616.8:c.6040G>T (ATM)	ENSP00000278616.4:p.Glu2014Ter
ENST00000452508.6:c.6040G>T (ATM)	ENSP00000388058.2:p.Glu2014Ter
ENST00000524792.5:n.2255G>T (ATM)
ENST00000525729.5:c.641-6785C>A (C11orf65)	ENSP00000433395.1:n.641-6785C>A
ENST00000529588.5:c.464G>T (ATM)
ENST00000532765.1:n.357G>T (ATM)
ENST00000533690.5:n.1444G>T (ATM)
NM_000051.3:c.6040G>T , LRG_135t1:c.6040G>T (ATM)	NP_000042.3:p.Glu2014Ter
XM_005271561.3:c.6040G>T (ATM)	XP_005271618.2:p.Glu2014Ter
XM_005271562.3:c.6040G>T (ATM)	XP_005271619.2:p.Glu2014Ter
XM_006718843.2:c.6040G>T (ATM)	XP_006718906.1:p.Glu2014Ter
XM_006718845.1:c.1996G>T (ATM)	XP_006718908.1:p.Glu666Ter
XM_011542840.1:c.6040G>T (ATM)	XP_011541142.1:p.Glu2014Ter
XM_011542841.1:c.6040G>T (ATM)	XP_011541143.1:p.Glu2014Ter
XM_011542842.1:c.5875G>T (ATM)	XP_011541144.1:p.Glu1959Ter
XM_011542843.1:c.6040G>T (ATM)	XP_011541145.1:p.Glu2014Ter
XM_011542844.1:c.4996G>T (ATM)	XP_011541146.1:p.Glu1666Ter
XM_011542845.1:c.4732G>T (ATM)	XP_011541147.1:p.Glu1578Ter
XM_011542847.1:c.1111G>T (ATM)	XP_011541149.1:p.Glu371Ter
NM_001330368.1:c.641-6785C>A (C11orf65)	NP_001317297.1:n.641-6785C>A
NM_001351110.1:c.*39-6785C>A (C11orf65)	NP_001338039.1:n.*39-6785C>A
NM_001351834.1:c.6040G>T (ATM)	NP_001338763.1:p.Glu2014Ter
XM_005271562.5:c.6040G>T (ATM)	XP_005271619.2:p.Glu2014Ter
XM_006718843.4:c.6040G>T (ATM)	XP_006718906.1:p.Glu2014Ter
XM_006718845.2:c.1996G>T (ATM)	XP_006718908.1:p.Glu666Ter
XM_011542840.3:c.6040G>T (ATM)	XP_011541142.1:p.Glu2014Ter
XM_011542842.3:c.5875G>T (ATM)	XP_011541144.1:p.Glu1959Ter
XM_011542843.2:c.6040G>T (ATM)	XP_011541145.1:p.Glu2014Ter
XM_011542844.3:c.4996G>T (ATM)	XP_011541146.1:p.Glu1666Ter
XM_011542845.2:c.4732G>T (ATM)	XP_011541147.1:p.Glu1578Ter
XM_017017789.2:c.6040G>T (ATM)	XP_016873278.1:p.Glu2014Ter
XM_017017790.2:c.6040G>T (ATM)	XP_016873279.1:p.Glu2014Ter
XM_017017791.1:c.6040G>T (ATM)	XP_016873280.1:p.Glu2014Ter
NM_001330368.2:c.641-6785C>A (C11orf65)	NP_001317297.1:n.641-6785C>A
NM_001351110.2:c.*39-6785C>A (C11orf65)	NP_001338039.1:n.*39-6785C>A
NM_001351834.2:c.6040G>T (ATM)	NP_001338763.1:p.Glu2014Ter
NM_000051.4:c.6040G>T (ATM) MANE Select	NP_000042.3:p.Glu2014Ter