Canonical Allele Identifier: CA382516339
Community Standard Title: NM_000051.4(ATM):c.8300T>C (p.Leu2767Pro)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108343253T>C , CM000673.2:g.108343253T>C GRCh38
NC_000011.9:g.108213980T>C , CM000673.1:g.108213980T>C GRCh37
NC_000011.8:g.107719190T>C NCBI36
NG_009830.1:g.125422T>C , LRG_135:g.125422T>C
NG_054724.1:g.131580A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.8300T>C (ATM) MANE Select NP_000042.3:p.Leu2767Pro
ENST00000675843.1:c.8300T>C (ATM) MANE Select ENSP00000501606.1:p.Leu2767Pro
NM_000051.3:c.8300T>C , LRG_135t1:c.8300T>C (ATM) NP_000042.3:p.Leu2767Pro
NM_001330368.1:c.641-34182A>G (C11orf65) NP_001317297.1:n.641-34182A>G
NM_001330368.2:c.641-34182A>G (C11orf65) NP_001317297.1:n.641-34182A>G
NM_001351110.1:c.695-7961A>G (C11orf65) NP_001338039.1:n.695-7961A>G
NM_001351110.2:c.695-7961A>G (C11orf65) NP_001338039.1:n.695-7961A>G
NM_001351834.1:c.8300T>C (ATM) NP_001338763.1:p.Leu2767Pro
NM_001351834.2:c.8300T>C (ATM) NP_001338763.1:p.Leu2767Pro
NR_147053.2:n.2302-7961A>G (C11orf65)
NR_147053.3:n.2300-7961A>G (C11orf65)
ENST00000278616.8:c.8300T>C (ATM) ENSP00000278616.4:p.Leu2767Pro
ENST00000278616.9:c.8300T>C (ATM) ENSP00000278616.4:p.Leu2767Pro
ENST00000452508.6:c.8300T>C (ATM) ENSP00000388058.2:p.Leu2767Pro
ENST00000452508.7:c.8300T>C (ATM) ENSP00000388058.2:p.Leu2767Pro
ENST00000524755.5:c.227-7961A>G (C11orf65)
ENST00000524792.5:n.4515T>C (ATM)
ENST00000525729.5:c.641-34182A>G (C11orf65) ENSP00000433395.1:n.641-34182A>G
ENST00000526725.1:n.272-2889A>G (C11orf65)
ENST00000527531.5:c.*1197-7961A>G (C11orf65) ENSP00000431706.1:n.*1197-7961A>G
ENST00000527805.6:c.*3364T>C (ATM) ENSP00000435747.2:n.*3364T>C
ENST00000615746.4:c.*1197-7961A>G (C11orf65) ENSP00000483537.1:n.*1197-7961A>G
ENST00000638786.2:n.998T>C (ATM)
ENST00000675595.1:c.*3435T>C (ATM) ENSP00000502563.1:n.*3435T>C
ENST00000682286.1:n.3057T>C (ATM)
ENST00000682302.1:n.2718T>C (ATM)
ENST00000683174.1:n.9784T>C (ATM)
ENST00000683524.1:n.3524T>C (ATM)
ENST00000684152.1:n.3716T>C (ATM)
ENST00000684180.1:n.774T>C (ATM)
ENST00000684447.1:n.4793T>C (ATM)
ENST00000713593.1:c.*7771T>C (ATM) ENSP00000518889.1:n.*7771T>C
XM_005271414.3:c.788-7961A>G (C11orf65) XP_005271471.1:n.788-7961A>G
XM_005271414.4:c.788-7961A>G (C11orf65) XP_005271471.1:n.788-7961A>G
XM_005271415.3:c.732-7961A>G (C11orf65) XP_005271472.1:n.732-7961A>G
XM_005271415.4:c.732-7961A>G (C11orf65) XP_005271472.1:n.732-7961A>G
XM_005271561.3:c.8300T>C (ATM) XP_005271618.2:p.Leu2767Pro
XM_005271562.3:c.8300T>C (ATM) XP_005271619.2:p.Leu2767Pro
XM_005271562.5:c.8300T>C (ATM) XP_005271619.2:p.Leu2767Pro
XM_006718843.2:c.8300T>C (ATM) XP_006718906.1:p.Leu2767Pro
XM_006718843.4:c.8300T>C (ATM) XP_006718906.1:p.Leu2767Pro
XM_006718845.1:c.4256T>C (ATM) XP_006718908.1:p.Leu1419Pro
XM_006718845.2:c.4256T>C (ATM) XP_006718908.1:p.Leu1419Pro
XM_011542640.1:c.788-2889A>G (C11orf65) XP_011540942.1:n.788-2889A>G
XM_011542640.2:c.788-2889A>G (C11orf65) XP_011540942.1:n.788-2889A>G
XM_011542643.1:c.732-2889A>G (C11orf65) XP_011540945.1:n.732-2889A>G
XM_011542643.2:c.732-2889A>G (C11orf65) XP_011540945.1:n.732-2889A>G
XM_011542840.1:c.8300T>C (ATM) XP_011541142.1:p.Leu2767Pro
XM_011542840.3:c.8300T>C (ATM) XP_011541142.1:p.Leu2767Pro
XM_011542841.1:c.8300T>C (ATM) XP_011541143.1:p.Leu2767Pro
XM_011542842.1:c.8135T>C (ATM) XP_011541144.1:p.Leu2712Pro
XM_011542842.3:c.8135T>C (ATM) XP_011541144.1:p.Leu2712Pro
XM_011542843.1:c.8300T>C (ATM) XP_011541145.1:p.Leu2767Pro
XM_011542843.2:c.8300T>C (ATM) XP_011541145.1:p.Leu2767Pro
XM_011542844.1:c.7256T>C (ATM) XP_011541146.1:p.Leu2419Pro
XM_011542844.3:c.7256T>C (ATM) XP_011541146.1:p.Leu2419Pro
XM_011542845.1:c.6992T>C (ATM) XP_011541147.1:p.Leu2331Pro
XM_011542845.2:c.6992T>C (ATM) XP_011541147.1:p.Leu2331Pro
XM_011542847.1:c.3371T>C (ATM) XP_011541149.1:p.Leu1124Pro
XM_017017247.1:c.904-2889A>G (C11orf65) XP_016872736.1:n.904-2889A>G
XM_017017789.2:c.8300T>C (ATM) XP_016873278.1:p.Leu2767Pro
XM_017017790.2:c.8300T>C (ATM) XP_016873279.1:p.Leu2767Pro