Canonical Allele Identifier: CA16613494
Community Standard Title: NM_000051.4(ATM):c.7527G>A (p.Met2509Ile)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108331455G>A , CM000673.2:g.108331455G>A GRCh38
NC_000011.9:g.108202182G>A , CM000673.1:g.108202182G>A GRCh37
NC_000011.8:g.107707392G>A NCBI36
NG_009830.1:g.113624G>A , LRG_135:g.113624G>A
NG_054724.1:g.143378C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.7527G>A (ATM) MANE Select NP_000042.3:p.Met2509Ile
ENST00000675843.1:c.7527G>A (ATM) MANE Select ENSP00000501606.1:p.Met2509Ile
NM_000051.3:c.7527G>A , LRG_135t1:c.7527G>A (ATM) NP_000042.3:p.Met2509Ile
NM_001330368.1:c.641-22384C>T (C11orf65) NP_001317297.1:n.641-22384C>T
NM_001330368.2:c.641-22384C>T (C11orf65) NP_001317297.1:n.641-22384C>T
NM_001351110.1:c.*38+3765C>T (C11orf65) NP_001338039.1:n.*38+3765C>T
NM_001351110.2:c.*38+3765C>T (C11orf65) NP_001338039.1:n.*38+3765C>T
NM_001351834.1:c.7527G>A (ATM) NP_001338763.1:p.Met2509Ile
NM_001351834.2:c.7527G>A (ATM) NP_001338763.1:p.Met2509Ile
NR_147053.2:n.2487C>T (C11orf65)
NR_147053.3:n.2485C>T (C11orf65)
ENST00000278616.8:c.7527G>A (ATM) ENSP00000278616.4:p.Met2509Ile
ENST00000278616.9:c.7527G>A (ATM) ENSP00000278616.4:p.Met2509Ile
ENST00000452508.6:c.7527G>A (ATM) ENSP00000388058.2:p.Met2509Ile
ENST00000452508.7:c.7527G>A (ATM) ENSP00000388058.2:p.Met2509Ile
ENST00000524755.5:c.412C>T (C11orf65)
ENST00000524792.5:n.3742G>A (ATM)
ENST00000525056.2:n.1946G>A (ATM)
ENST00000525537.3:n.484G>A (ATM)
ENST00000525729.5:c.641-22384C>T (C11orf65) ENSP00000433395.1:n.641-22384C>T
ENST00000527531.5:c.*1382C>T (C11orf65) ENSP00000431706.1:n.*1382C>T
ENST00000527805.6:c.*2591G>A (ATM) ENSP00000435747.2:n.*2591G>A
ENST00000533690.5:n.2931G>A (ATM)
ENST00000615746.4:c.*1382C>T (C11orf65) ENSP00000483537.1:n.*1382C>T
ENST00000638786.2:n.364G>A (ATM)
ENST00000675595.1:c.*2662G>A (ATM) ENSP00000502563.1:n.*2662G>A
ENST00000682286.1:n.2284G>A (ATM)
ENST00000682302.1:n.1945G>A (ATM)
ENST00000683174.1:n.9011G>A (ATM)
ENST00000683524.1:n.2751G>A (ATM)
ENST00000684152.1:n.3241G>A (ATM)
ENST00000684447.1:n.1990G>A (ATM)
ENST00000713593.1:c.*6998G>A (ATM) ENSP00000518889.1:n.*6998G>A
XM_005271414.4:c.*151C>T (C11orf65) XP_005271471.1:n.*151C>T
XM_005271415.3:c.*95C>T (C11orf65) XP_005271472.1:n.*95C>T
XM_005271415.4:c.*95C>T (C11orf65) XP_005271472.1:n.*95C>T
XM_005271561.3:c.7527G>A (ATM) XP_005271618.2:p.Met2509Ile
XM_005271562.3:c.7527G>A (ATM) XP_005271619.2:p.Met2509Ile
XM_005271562.5:c.7527G>A (ATM) XP_005271619.2:p.Met2509Ile
XM_006718843.2:c.7527G>A (ATM) XP_006718906.1:p.Met2509Ile
XM_006718843.4:c.7527G>A (ATM) XP_006718906.1:p.Met2509Ile
XM_006718845.1:c.3483G>A (ATM) XP_006718908.1:p.Met1161Ile
XM_006718845.2:c.3483G>A (ATM) XP_006718908.1:p.Met1161Ile
XM_011542840.1:c.7527G>A (ATM) XP_011541142.1:p.Met2509Ile
XM_011542840.3:c.7527G>A (ATM) XP_011541142.1:p.Met2509Ile
XM_011542841.1:c.7527G>A (ATM) XP_011541143.1:p.Met2509Ile
XM_011542842.1:c.7362G>A (ATM) XP_011541144.1:p.Met2454Ile
XM_011542842.3:c.7362G>A (ATM) XP_011541144.1:p.Met2454Ile
XM_011542843.1:c.7527G>A (ATM) XP_011541145.1:p.Met2509Ile
XM_011542843.2:c.7527G>A (ATM) XP_011541145.1:p.Met2509Ile
XM_011542844.1:c.6483G>A (ATM) XP_011541146.1:p.Met2161Ile
XM_011542844.3:c.6483G>A (ATM) XP_011541146.1:p.Met2161Ile
XM_011542845.1:c.6219G>A (ATM) XP_011541147.1:p.Met2073Ile
XM_011542845.2:c.6219G>A (ATM) XP_011541147.1:p.Met2073Ile
XM_011542847.1:c.2598G>A (ATM) XP_011541149.1:p.Met866Ile
XM_017017789.2:c.7527G>A (ATM) XP_016873278.1:p.Met2509Ile
XM_017017790.2:c.7527G>A (ATM) XP_016873279.1:p.Met2509Ile