Canonical Allele Identifier: CA382561917

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 524250
• ClinVar RCV Id: RCV000627880
• dbSNP Id: rs1292192410
• gnomAD v2: 11-108205734-A-G
• gnomAD v4: 11-108335007-A-G
• COSMIC: COSM922743 ; COSM1585337
• MyVariant Identifiers: chr11:g.108205734A>G (hg19) ; chr11:g.108335007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335007A>G , CM000673.2:g.108335007A>G	GRCh38
NC_000011.9:g.108205734A>G , CM000673.1:g.108205734A>G	GRCh37
NC_000011.8:g.107710944A>G	NCBI36
NG_009830.1:g.117176A>G , LRG_135:g.117176A>G
NG_054724.1:g.139826T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8049A>G (ATM)	ENSP00000388058.2:p.Ile2683Met
ENST00000713593.1:c.*7520A>G (ATM)	ENSP00000518889.1:n.*7520A>G
ENST00000278616.9:c.8049A>G (ATM)	ENSP00000278616.4:p.Ile2683Met
ENST00000525056.2:n.2468A>G (ATM)
ENST00000638786.2:n.747A>G (ATM)
ENST00000682286.1:n.2806A>G (ATM)
ENST00000682302.1:n.2467A>G (ATM)
ENST00000683174.1:n.9533A>G (ATM)
ENST00000683524.1:n.3273A>G (ATM)
ENST00000684152.1:n.3465A>G (ATM)
ENST00000684180.1:n.523A>G (ATM)
ENST00000684447.1:n.4542A>G (ATM)
ENST00000527805.6:c.*3113A>G (ATM)	ENSP00000435747.2:n.*3113A>G
ENST00000675595.1:c.*3184A>G (ATM)	ENSP00000502563.1:n.*3184A>G
ENST00000675843.1:c.8049A>G (ATM) MANE Select	ENSP00000501606.1:p.Ile2683Met
ENST00000278616.8:c.8049A>G (ATM)	ENSP00000278616.4:p.Ile2683Met
ENST00000452508.6:c.8049A>G (ATM)	ENSP00000388058.2:p.Ile2683Met
ENST00000524755.5:c.299+213T>C (C11orf65)
ENST00000524792.5:n.4264A>G (ATM)
ENST00000525056.1:n.246A>G (ATM)
ENST00000525729.5:c.641-25936T>C (C11orf65)	ENSP00000433395.1:n.641-25936T>C
ENST00000527531.5:c.*1269+213T>C (C11orf65)	ENSP00000431706.1:n.*1269+213T>C
ENST00000533979.5:n.261A>G (ATM)
ENST00000615746.4:c.*1269+213T>C (C11orf65)	ENSP00000483537.1:n.*1269+213T>C
NM_000051.3:c.8049A>G , LRG_135t1:c.8049A>G (ATM)	NP_000042.3:p.Ile2683Met
XM_005271414.3:c.*38+213T>C (C11orf65)	XP_005271471.1:n.*38+213T>C
XM_005271415.3:c.804+213T>C (C11orf65)	XP_005271472.1:n.804+213T>C
XM_005271561.3:c.8049A>G (ATM)	XP_005271618.2:p.Ile2683Met
XM_005271562.3:c.8049A>G (ATM)	XP_005271619.2:p.Ile2683Met
XM_006718843.2:c.8049A>G (ATM)	XP_006718906.1:p.Ile2683Met
XM_006718845.1:c.4005A>G (ATM)	XP_006718908.1:p.Ile1335Met
XM_011542840.1:c.8049A>G (ATM)	XP_011541142.1:p.Ile2683Met
XM_011542841.1:c.8049A>G (ATM)	XP_011541143.1:p.Ile2683Met
XM_011542842.1:c.7884A>G (ATM)	XP_011541144.1:p.Ile2628Met
XM_011542843.1:c.8049A>G (ATM)	XP_011541145.1:p.Ile2683Met
XM_011542844.1:c.7005A>G (ATM)	XP_011541146.1:p.Ile2335Met
XM_011542845.1:c.6741A>G (ATM)	XP_011541147.1:p.Ile2247Met
XM_011542847.1:c.3120A>G (ATM)	XP_011541149.1:p.Ile1040Met
NM_001330368.1:c.641-25936T>C (C11orf65)	NP_001317297.1:n.641-25936T>C
NM_001351110.1:c.*38+213T>C (C11orf65)	NP_001338039.1:n.*38+213T>C
NM_001351834.1:c.8049A>G (ATM)	NP_001338763.1:p.Ile2683Met
NR_147053.2:n.2374+213T>C (C11orf65)
XM_005271414.4:c.*38+213T>C (C11orf65)	XP_005271471.1:n.*38+213T>C
XM_005271415.4:c.804+213T>C (C11orf65)	XP_005271472.1:n.804+213T>C
XM_005271562.5:c.8049A>G (ATM)	XP_005271619.2:p.Ile2683Met
XM_006718843.4:c.8049A>G (ATM)	XP_006718906.1:p.Ile2683Met
XM_006718845.2:c.4005A>G (ATM)	XP_006718908.1:p.Ile1335Met
XM_011542840.3:c.8049A>G (ATM)	XP_011541142.1:p.Ile2683Met
XM_011542842.3:c.7884A>G (ATM)	XP_011541144.1:p.Ile2628Met
XM_011542843.2:c.8049A>G (ATM)	XP_011541145.1:p.Ile2683Met
XM_011542844.3:c.7005A>G (ATM)	XP_011541146.1:p.Ile2335Met
XM_011542845.2:c.6741A>G (ATM)	XP_011541147.1:p.Ile2247Met
XM_017017789.2:c.8049A>G (ATM)	XP_016873278.1:p.Ile2683Met
XM_017017790.2:c.8049A>G (ATM)	XP_016873279.1:p.Ile2683Met
NM_001330368.2:c.641-25936T>C (C11orf65)	NP_001317297.1:n.641-25936T>C
NM_001351110.2:c.*38+213T>C (C11orf65)	NP_001338039.1:n.*38+213T>C
NM_001351834.2:c.8049A>G (ATM)	NP_001338763.1:p.Ile2683Met
NM_000051.4:c.8049A>G (ATM) MANE Select	NP_000042.3:p.Ile2683Met
NR_147053.3:n.2372+213T>C (C11orf65)