Canonical Allele Identifier: CA191724
Community Standard Title: NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108330222T>C , CM000673.2:g.108330222T>C GRCh38
NC_000011.9:g.108200949T>C , CM000673.1:g.108200949T>C GRCh37
NC_000011.8:g.107706159T>C NCBI36
NG_009830.1:g.112391T>C , LRG_135:g.112391T>C
NG_054724.1:g.144611A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.7316T>C (ATM) MANE Select NP_000042.3:p.Val2439Ala
ENST00000675843.1:c.7316T>C (ATM) MANE Select ENSP00000501606.1:p.Val2439Ala
NM_000051.3:c.7316T>C , LRG_135t1:c.7316T>C (ATM) NP_000042.3:p.Val2439Ala
NM_001330368.1:c.641-21151A>G (C11orf65) NP_001317297.1:n.641-21151A>G
NM_001330368.2:c.641-21151A>G (C11orf65) NP_001317297.1:n.641-21151A>G
NM_001351110.1:c.*38+4998A>G (C11orf65) NP_001338039.1:n.*38+4998A>G
NM_001351110.2:c.*38+4998A>G (C11orf65) NP_001338039.1:n.*38+4998A>G
NM_001351834.1:c.7316T>C (ATM) NP_001338763.1:p.Val2439Ala
NM_001351834.2:c.7316T>C (ATM) NP_001338763.1:p.Val2439Ala
ENST00000278616.8:c.7316T>C (ATM) ENSP00000278616.4:p.Val2439Ala
ENST00000278616.9:c.7316T>C (ATM) ENSP00000278616.4:p.Val2439Ala
ENST00000452508.6:c.7316T>C (ATM) ENSP00000388058.2:p.Val2439Ala
ENST00000452508.7:c.7316T>C (ATM) ENSP00000388058.2:p.Val2439Ala
ENST00000524792.5:n.3531T>C (ATM)
ENST00000525056.2:n.1735T>C (ATM)
ENST00000525537.3:n.273T>C (ATM)
ENST00000525729.5:c.641-21151A>G (C11orf65) ENSP00000433395.1:n.641-21151A>G
ENST00000527805.6:c.*2380T>C (ATM) ENSP00000435747.2:n.*2380T>C
ENST00000533690.5:n.2720T>C (ATM)
ENST00000638786.2:n.153T>C (ATM)
ENST00000675595.1:c.*2451T>C (ATM) ENSP00000502563.1:n.*2451T>C
ENST00000682286.1:n.2073T>C (ATM)
ENST00000682302.1:n.1734T>C (ATM)
ENST00000683174.1:n.8800T>C (ATM)
ENST00000683524.1:n.2540T>C (ATM)
ENST00000684152.1:n.3030T>C (ATM)
ENST00000684447.1:n.1779T>C (ATM)
ENST00000713593.1:c.*6787T>C (ATM) ENSP00000518889.1:n.*6787T>C
XM_005271561.3:c.7316T>C (ATM) XP_005271618.2:p.Val2439Ala
XM_005271562.3:c.7316T>C (ATM) XP_005271619.2:p.Val2439Ala
XM_005271562.5:c.7316T>C (ATM) XP_005271619.2:p.Val2439Ala
XM_006718843.2:c.7316T>C (ATM) XP_006718906.1:p.Val2439Ala
XM_006718843.4:c.7316T>C (ATM) XP_006718906.1:p.Val2439Ala
XM_006718845.1:c.3272T>C (ATM) XP_006718908.1:p.Val1091Ala
XM_006718845.2:c.3272T>C (ATM) XP_006718908.1:p.Val1091Ala
XM_011542840.1:c.7316T>C (ATM) XP_011541142.1:p.Val2439Ala
XM_011542840.3:c.7316T>C (ATM) XP_011541142.1:p.Val2439Ala
XM_011542841.1:c.7316T>C (ATM) XP_011541143.1:p.Val2439Ala
XM_011542842.1:c.7151T>C (ATM) XP_011541144.1:p.Val2384Ala
XM_011542842.3:c.7151T>C (ATM) XP_011541144.1:p.Val2384Ala
XM_011542843.1:c.7316T>C (ATM) XP_011541145.1:p.Val2439Ala
XM_011542843.2:c.7316T>C (ATM) XP_011541145.1:p.Val2439Ala
XM_011542844.1:c.6272T>C (ATM) XP_011541146.1:p.Val2091Ala
XM_011542844.3:c.6272T>C (ATM) XP_011541146.1:p.Val2091Ala
XM_011542845.1:c.6008T>C (ATM) XP_011541147.1:p.Val2003Ala
XM_011542845.2:c.6008T>C (ATM) XP_011541147.1:p.Val2003Ala
XM_011542847.1:c.2387T>C (ATM) XP_011541149.1:p.Val796Ala
XM_017017789.2:c.7316T>C (ATM) XP_016873278.1:p.Val2439Ala
XM_017017790.2:c.7316T>C (ATM) XP_016873279.1:p.Val2439Ala