Canonical Allele Identifier: CA382555322

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1297044
• ClinVar RCV Id: RCV001724780 ; RCV002361004
• dbSNP Id: rs786203332
• gnomAD v2: 11-108196222-A-G
• MyVariant Identifiers: chr11:g.108196222A>G (hg19) ; chr11:g.108325495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325495A>G , CM000673.2:g.108325495A>G	GRCh38
NC_000011.9:g.108196222A>G , CM000673.1:g.108196222A>G	GRCh37
NC_000011.8:g.107701432A>G	NCBI36
NG_009830.1:g.107664A>G , LRG_135:g.107664A>G
NG_054724.1:g.149338T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6758A>G (ATM)	ENSP00000388058.2:p.Lys2253Arg
ENST00000713593.1:c.*6229A>G (ATM)	ENSP00000518889.1:n.*6229A>G
ENST00000278616.9:c.6758A>G (ATM)	ENSP00000278616.4:p.Lys2253Arg
ENST00000525056.2:n.1177A>G (ATM)
ENST00000682286.1:n.1515A>G (ATM)
ENST00000682302.1:n.1176A>G (ATM)
ENST00000683174.1:n.8242A>G (ATM)
ENST00000683524.1:n.1982A>G (ATM)
ENST00000684152.1:n.2472A>G (ATM)
ENST00000527805.6:c.*1822A>G (ATM)	ENSP00000435747.2:n.*1822A>G
ENST00000675595.1:c.*1893A>G (ATM)	ENSP00000502563.1:n.*1893A>G
ENST00000675843.1:c.6758A>G (ATM) MANE Select	ENSP00000501606.1:p.Lys2253Arg
ENST00000278616.8:c.6758A>G (ATM)	ENSP00000278616.4:p.Lys2253Arg
ENST00000452508.6:c.6758A>G (ATM)	ENSP00000388058.2:p.Lys2253Arg
ENST00000524792.5:n.2973A>G (ATM)
ENST00000525729.5:c.641-16424T>C (C11orf65)	ENSP00000433395.1:n.641-16424T>C
ENST00000533690.5:n.2162A>G (ATM)
NM_000051.3:c.6758A>G , LRG_135t1:c.6758A>G (ATM)	NP_000042.3:p.Lys2253Arg
XM_005271561.3:c.6758A>G (ATM)	XP_005271618.2:p.Lys2253Arg
XM_005271562.3:c.6758A>G (ATM)	XP_005271619.2:p.Lys2253Arg
XM_006718843.2:c.6758A>G (ATM)	XP_006718906.1:p.Lys2253Arg
XM_006718845.1:c.2714A>G (ATM)	XP_006718908.1:p.Lys905Arg
XM_011542840.1:c.6758A>G (ATM)	XP_011541142.1:p.Lys2253Arg
XM_011542841.1:c.6758A>G (ATM)	XP_011541143.1:p.Lys2253Arg
XM_011542842.1:c.6593A>G (ATM)	XP_011541144.1:p.Lys2198Arg
XM_011542843.1:c.6758A>G (ATM)	XP_011541145.1:p.Lys2253Arg
XM_011542844.1:c.5714A>G (ATM)	XP_011541146.1:p.Lys1905Arg
XM_011542845.1:c.5450A>G (ATM)	XP_011541147.1:p.Lys1817Arg
XM_011542847.1:c.1829A>G (ATM)	XP_011541149.1:p.Lys610Arg
NM_001330368.1:c.641-16424T>C (C11orf65)	NP_001317297.1:n.641-16424T>C
NM_001351110.1:c.*38+9725T>C (C11orf65)	NP_001338039.1:n.*38+9725T>C
NM_001351834.1:c.6758A>G (ATM)	NP_001338763.1:p.Lys2253Arg
XM_005271562.5:c.6758A>G (ATM)	XP_005271619.2:p.Lys2253Arg
XM_006718843.4:c.6758A>G (ATM)	XP_006718906.1:p.Lys2253Arg
XM_006718845.2:c.2714A>G (ATM)	XP_006718908.1:p.Lys905Arg
XM_011542840.3:c.6758A>G (ATM)	XP_011541142.1:p.Lys2253Arg
XM_011542842.3:c.6593A>G (ATM)	XP_011541144.1:p.Lys2198Arg
XM_011542843.2:c.6758A>G (ATM)	XP_011541145.1:p.Lys2253Arg
XM_011542844.3:c.5714A>G (ATM)	XP_011541146.1:p.Lys1905Arg
XM_011542845.2:c.5450A>G (ATM)	XP_011541147.1:p.Lys1817Arg
XM_017017789.2:c.6758A>G (ATM)	XP_016873278.1:p.Lys2253Arg
XM_017017790.2:c.6758A>G (ATM)	XP_016873279.1:p.Lys2253Arg
NM_001330368.2:c.641-16424T>C (C11orf65)	NP_001317297.1:n.641-16424T>C
NM_001351110.2:c.*38+9725T>C (C11orf65)	NP_001338039.1:n.*38+9725T>C
NM_001351834.2:c.6758A>G (ATM)	NP_001338763.1:p.Lys2253Arg
NM_000051.4:c.6758A>G (ATM) MANE Select	NP_000042.3:p.Lys2253Arg