Canonical Allele Identifier: CA10582854

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 236776
• ClinVar RCV Id: RCV000230138 ; RCV004020738
• dbSNP Id: rs772228129
• MyVariant Identifiers: chr11:g.108202218C>G (hg19) ; chr11:g.108331491C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331491C>G , CM000673.2:g.108331491C>G	GRCh38
NC_000011.9:g.108202218C>G , CM000673.1:g.108202218C>G	GRCh37
NC_000011.8:g.107707428C>G	NCBI36
NG_009830.1:g.113660C>G , LRG_135:g.113660C>G
NG_054724.1:g.143342G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7563C>G (ATM)	ENSP00000388058.2:p.Tyr2521Ter
ENST00000713593.1:c.*7034C>G (ATM)	ENSP00000518889.1:n.*7034C>G
ENST00000278616.9:c.7563C>G (ATM)	ENSP00000278616.4:p.Tyr2521Ter
ENST00000525056.2:n.1982C>G (ATM)
ENST00000525537.3:n.520C>G (ATM)
ENST00000638786.2:n.400C>G (ATM)
ENST00000682286.1:n.2320C>G (ATM)
ENST00000682302.1:n.1981C>G (ATM)
ENST00000683174.1:n.9047C>G (ATM)
ENST00000683524.1:n.2787C>G (ATM)
ENST00000684152.1:n.3277C>G (ATM)
ENST00000684447.1:n.2026C>G (ATM)
ENST00000527805.6:c.*2627C>G (ATM)	ENSP00000435747.2:n.*2627C>G
ENST00000675595.1:c.*2698C>G (ATM)	ENSP00000502563.1:n.*2698C>G
ENST00000675843.1:c.7563C>G (ATM) MANE Select	ENSP00000501606.1:p.Tyr2521Ter
ENST00000278616.8:c.7563C>G (ATM)	ENSP00000278616.4:p.Tyr2521Ter
ENST00000452508.6:c.7563C>G (ATM)	ENSP00000388058.2:p.Tyr2521Ter
ENST00000524755.5:c.376G>C (C11orf65)
ENST00000524792.5:n.3778C>G (ATM)
ENST00000525729.5:c.641-22420G>C (C11orf65)	ENSP00000433395.1:n.641-22420G>C
ENST00000527531.5:c.*1346G>C (C11orf65)	ENSP00000431706.1:n.*1346G>C
ENST00000533690.5:n.2967C>G (ATM)
ENST00000615746.4:c.*1346G>C (C11orf65)	ENSP00000483537.1:n.*1346G>C
NM_000051.3:c.7563C>G , LRG_135t1:c.7563C>G (ATM)	NP_000042.3:p.Tyr2521Ter
XM_005271414.3:c.*115G>C (C11orf65)	XP_005271471.1:n.*115G>C
XM_005271415.3:c.*59G>C (C11orf65)	XP_005271472.1:n.*59G>C
XM_005271561.3:c.7563C>G (ATM)	XP_005271618.2:p.Tyr2521Ter
XM_005271562.3:c.7563C>G (ATM)	XP_005271619.2:p.Tyr2521Ter
XM_006718843.2:c.7563C>G (ATM)	XP_006718906.1:p.Tyr2521Ter
XM_006718845.1:c.3519C>G (ATM)	XP_006718908.1:p.Tyr1173Ter
XM_011542840.1:c.7563C>G (ATM)	XP_011541142.1:p.Tyr2521Ter
XM_011542841.1:c.7563C>G (ATM)	XP_011541143.1:p.Tyr2521Ter
XM_011542842.1:c.7398C>G (ATM)	XP_011541144.1:p.Tyr2466Ter
XM_011542843.1:c.7563C>G (ATM)	XP_011541145.1:p.Tyr2521Ter
XM_011542844.1:c.6519C>G (ATM)	XP_011541146.1:p.Tyr2173Ter
XM_011542845.1:c.6255C>G (ATM)	XP_011541147.1:p.Tyr2085Ter
XM_011542847.1:c.2634C>G (ATM)	XP_011541149.1:p.Tyr878Ter
NM_001330368.1:c.641-22420G>C (C11orf65)	NP_001317297.1:n.641-22420G>C
NM_001351110.1:c.*38+3729G>C (C11orf65)	NP_001338039.1:n.*38+3729G>C
NM_001351834.1:c.7563C>G (ATM)	NP_001338763.1:p.Tyr2521Ter
NR_147053.2:n.2451G>C (C11orf65)
XM_005271414.4:c.*115G>C (C11orf65)	XP_005271471.1:n.*115G>C
XM_005271415.4:c.*59G>C (C11orf65)	XP_005271472.1:n.*59G>C
XM_005271562.5:c.7563C>G (ATM)	XP_005271619.2:p.Tyr2521Ter
XM_006718843.4:c.7563C>G (ATM)	XP_006718906.1:p.Tyr2521Ter
XM_006718845.2:c.3519C>G (ATM)	XP_006718908.1:p.Tyr1173Ter
XM_011542840.3:c.7563C>G (ATM)	XP_011541142.1:p.Tyr2521Ter
XM_011542842.3:c.7398C>G (ATM)	XP_011541144.1:p.Tyr2466Ter
XM_011542843.2:c.7563C>G (ATM)	XP_011541145.1:p.Tyr2521Ter
XM_011542844.3:c.6519C>G (ATM)	XP_011541146.1:p.Tyr2173Ter
XM_011542845.2:c.6255C>G (ATM)	XP_011541147.1:p.Tyr2085Ter
XM_017017789.2:c.7563C>G (ATM)	XP_016873278.1:p.Tyr2521Ter
XM_017017790.2:c.7563C>G (ATM)	XP_016873279.1:p.Tyr2521Ter
NM_001330368.2:c.641-22420G>C (C11orf65)	NP_001317297.1:n.641-22420G>C
NM_001351110.2:c.*38+3729G>C (C11orf65)	NP_001338039.1:n.*38+3729G>C
NM_001351834.2:c.7563C>G (ATM)	NP_001338763.1:p.Tyr2521Ter
NM_000051.4:c.7563C>G (ATM) MANE Select	NP_000042.3:p.Tyr2521Ter
NR_147053.3:n.2449G>C (C11orf65)