Canonical Allele Identifier: CA382531205
Community Standard Title: NM_000051.4(ATM):c.9032T>C (p.Met3011Thr)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108365369T>C , CM000673.2:g.108365369T>C GRCh38
NC_000011.9:g.108236096T>C , CM000673.1:g.108236096T>C GRCh37
NC_000011.8:g.107741306T>C NCBI36
NG_009830.1:g.147538T>C , LRG_135:g.147538T>C
NG_054724.1:g.109464A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.9032T>C (ATM) MANE Select NP_000042.3:p.Met3011Thr
ENST00000675843.1:c.9032T>C (ATM) MANE Select ENSP00000501606.1:p.Met3011Thr
NM_000051.3:c.9032T>C , LRG_135t1:c.9032T>C (ATM) NP_000042.3:p.Met3011Thr
NM_001330368.1:c.640+20551A>G (C11orf65) NP_001317297.1:n.640+20551A>G
NM_001330368.2:c.640+20551A>G (C11orf65) NP_001317297.1:n.640+20551A>G
NM_001351110.1:c.694+20551A>G (C11orf65) NP_001338039.1:n.694+20551A>G
NM_001351110.2:c.694+20551A>G (C11orf65) NP_001338039.1:n.694+20551A>G
NM_001351834.1:c.9032T>C (ATM) NP_001338763.1:p.Met3011Thr
NM_001351834.2:c.9032T>C (ATM) NP_001338763.1:p.Met3011Thr
NR_147053.2:n.1107-9260A>G (C11orf65)
NR_147053.3:n.1105-9260A>G (C11orf65)
ENST00000278616.8:c.9032T>C (ATM) ENSP00000278616.4:p.Met3011Thr
ENST00000278616.9:c.9032T>C (ATM) ENSP00000278616.4:p.Met3011Thr
ENST00000452508.6:c.9032T>C (ATM) ENSP00000388058.2:p.Met3011Thr
ENST00000452508.7:c.9032T>C (ATM) ENSP00000388058.2:p.Met3011Thr
ENST00000524755.5:c.226+27839A>G (C11orf65)
ENST00000524792.5:n.5247T>C (ATM)
ENST00000525178.5:n.520T>C (ATM)
ENST00000525729.5:c.640+20551A>G (C11orf65) ENSP00000433395.1:n.640+20551A>G
ENST00000526725.1:n.272-25005A>G (C11orf65)
ENST00000527181.1:n.371T>C (ATM)
ENST00000527531.5:c.*2-9260A>G (C11orf65) ENSP00000431706.1:n.*2-9260A>G
ENST00000527805.6:c.*4096T>C (ATM) ENSP00000435747.2:n.*4096T>C
ENST00000615746.4:c.*2-9260A>G (C11orf65) ENSP00000483537.1:n.*2-9260A>G
ENST00000638786.2:n.1730T>C (ATM)
ENST00000675595.1:c.*4167T>C (ATM) ENSP00000502563.1:n.*4167T>C
ENST00000682286.1:n.3789T>C (ATM)
ENST00000682302.1:n.3450T>C (ATM)
ENST00000682569.1:n.2379T>C (ATM)
ENST00000683174.1:n.10516T>C (ATM)
ENST00000683524.1:n.4256T>C (ATM)
ENST00000684152.1:n.4448T>C (ATM)
ENST00000684180.1:n.1506T>C (ATM)
ENST00000684447.1:n.5525T>C (ATM)
ENST00000713593.1:c.*8503T>C (ATM) ENSP00000518889.1:n.*8503T>C
XM_005271414.3:c.787+20551A>G (C11orf65) XP_005271471.1:n.787+20551A>G
XM_005271414.4:c.787+20551A>G (C11orf65) XP_005271471.1:n.787+20551A>G
XM_005271415.3:c.731+27839A>G (C11orf65) XP_005271472.1:n.731+27839A>G
XM_005271415.4:c.731+27839A>G (C11orf65) XP_005271472.1:n.731+27839A>G
XM_005271561.3:c.9032T>C (ATM) XP_005271618.2:p.Met3011Thr
XM_005271562.3:c.9032T>C (ATM) XP_005271619.2:p.Met3011Thr
XM_005271562.5:c.9032T>C (ATM) XP_005271619.2:p.Met3011Thr
XM_006718843.2:c.9032T>C (ATM) XP_006718906.1:p.Met3011Thr
XM_006718843.4:c.9032T>C (ATM) XP_006718906.1:p.Met3011Thr
XM_006718845.1:c.4988T>C (ATM) XP_006718908.1:p.Met1663Thr
XM_006718845.2:c.4988T>C (ATM) XP_006718908.1:p.Met1663Thr
XM_011542640.1:c.787+20551A>G (C11orf65) XP_011540942.1:n.787+20551A>G
XM_011542640.2:c.787+20551A>G (C11orf65) XP_011540942.1:n.787+20551A>G
XM_011542642.1:c.732-16296A>G (C11orf65) XP_011540944.1:n.732-16296A>G
XM_011542643.1:c.732-25005A>G (C11orf65) XP_011540945.1:n.732-25005A>G
XM_011542643.2:c.732-25005A>G (C11orf65) XP_011540945.1:n.732-25005A>G
XM_011542840.1:c.9032T>C (ATM) XP_011541142.1:p.Met3011Thr
XM_011542840.3:c.9032T>C (ATM) XP_011541142.1:p.Met3011Thr
XM_011542841.1:c.9032T>C (ATM) XP_011541143.1:p.Met3011Thr
XM_011542842.1:c.8867T>C (ATM) XP_011541144.1:p.Met2956Thr
XM_011542842.3:c.8867T>C (ATM) XP_011541144.1:p.Met2956Thr
XM_011542844.1:c.7988T>C (ATM) XP_011541146.1:p.Met2663Thr
XM_011542844.3:c.7988T>C (ATM) XP_011541146.1:p.Met2663Thr
XM_011542845.1:c.7724T>C (ATM) XP_011541147.1:p.Met2575Thr
XM_011542845.2:c.7724T>C (ATM) XP_011541147.1:p.Met2575Thr
XM_011542847.1:c.4103T>C (ATM) XP_011541149.1:p.Met1368Thr
XM_017017247.1:c.903+17691A>G (C11orf65) XP_016872736.1:n.903+17691A>G
XM_017017789.2:c.9032T>C (ATM) XP_016873278.1:p.Met3011Thr
XM_017017790.2:c.9032T>C (ATM) XP_016873279.1:p.Met3011Thr