Canonical Allele Identifier: CA476745336
Community Standard Title: NM_000051.4(ATM):c.9168G>A (p.Val3056=)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108365505G>A , CM000673.2:g.108365505G>A GRCh38
NC_000011.9:g.108236232G>A , CM000673.1:g.108236232G>A GRCh37
NC_000011.8:g.107741442G>A NCBI36
NG_009830.1:g.147674G>A , LRG_135:g.147674G>A
NG_054724.1:g.109328C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.9168G>A (ATM) MANE Select NP_000042.3:p.Val3056=
ENST00000675843.1:c.9168G>A (ATM) MANE Select ENSP00000501606.1:p.Val3056=
NM_000051.3:c.9168G>A , LRG_135t1:c.9168G>A (ATM) NP_000042.3:p.Val3056=
NM_001330368.1:c.640+20415C>T (C11orf65) NP_001317297.1:n.640+20415C>T
NM_001330368.2:c.640+20415C>T (C11orf65) NP_001317297.1:n.640+20415C>T
NM_001351110.1:c.694+20415C>T (C11orf65) NP_001338039.1:n.694+20415C>T
NM_001351110.2:c.694+20415C>T (C11orf65) NP_001338039.1:n.694+20415C>T
NM_001351834.1:c.9168G>A (ATM) NP_001338763.1:p.Val3056=
NM_001351834.2:c.9168G>A (ATM) NP_001338763.1:p.Val3056=
NR_147053.2:n.1107-9396C>T (C11orf65)
NR_147053.3:n.1105-9396C>T (C11orf65)
ENST00000278616.8:c.9168G>A (ATM) ENSP00000278616.4:p.Val3056=
ENST00000278616.9:c.9168G>A (ATM) ENSP00000278616.4:p.Val3056=
ENST00000452508.6:c.9168G>A (ATM) ENSP00000388058.2:p.Val3056=
ENST00000452508.7:c.9168G>A (ATM) ENSP00000388058.2:p.Val3056=
ENST00000524755.5:c.226+27703C>T (C11orf65)
ENST00000524792.5:n.5383G>A (ATM)
ENST00000525178.5:n.656G>A (ATM)
ENST00000525729.5:c.640+20415C>T (C11orf65) ENSP00000433395.1:n.640+20415C>T
ENST00000526725.1:n.272-25141C>T (C11orf65)
ENST00000527181.1:n.507G>A (ATM)
ENST00000527531.5:c.*2-9396C>T (C11orf65) ENSP00000431706.1:n.*2-9396C>T
ENST00000527805.6:c.*4232G>A (ATM) ENSP00000435747.2:n.*4232G>A
ENST00000615746.4:c.*2-9396C>T (C11orf65) ENSP00000483537.1:n.*2-9396C>T
ENST00000638786.2:n.1866G>A (ATM)
ENST00000675595.1:c.*4303G>A (ATM) ENSP00000502563.1:n.*4303G>A
ENST00000682286.1:n.3925G>A (ATM)
ENST00000682302.1:n.3586G>A (ATM)
ENST00000682569.1:n.2515G>A (ATM)
ENST00000683174.1:n.10652G>A (ATM)
ENST00000683524.1:n.4392G>A (ATM)
ENST00000684152.1:n.4584G>A (ATM)
ENST00000684180.1:n.1642G>A (ATM)
ENST00000684447.1:n.5661G>A (ATM)
ENST00000713593.1:c.*8639G>A (ATM) ENSP00000518889.1:n.*8639G>A
XM_005271414.3:c.787+20415C>T (C11orf65) XP_005271471.1:n.787+20415C>T
XM_005271414.4:c.787+20415C>T (C11orf65) XP_005271471.1:n.787+20415C>T
XM_005271415.3:c.731+27703C>T (C11orf65) XP_005271472.1:n.731+27703C>T
XM_005271415.4:c.731+27703C>T (C11orf65) XP_005271472.1:n.731+27703C>T
XM_005271561.3:c.9168G>A (ATM) XP_005271618.2:p.Val3056=
XM_005271562.3:c.9168G>A (ATM) XP_005271619.2:p.Val3056=
XM_005271562.5:c.9168G>A (ATM) XP_005271619.2:p.Val3056=
XM_006718843.2:c.9168G>A (ATM) XP_006718906.1:p.Val3056=
XM_006718843.4:c.9168G>A (ATM) XP_006718906.1:p.Val3056=
XM_006718845.1:c.5124G>A (ATM) XP_006718908.1:p.Val1708=
XM_006718845.2:c.5124G>A (ATM) XP_006718908.1:p.Val1708=
XM_011542640.1:c.787+20415C>T (C11orf65) XP_011540942.1:n.787+20415C>T
XM_011542640.2:c.787+20415C>T (C11orf65) XP_011540942.1:n.787+20415C>T
XM_011542642.1:c.732-16432C>T (C11orf65) XP_011540944.1:n.732-16432C>T
XM_011542643.1:c.732-25141C>T (C11orf65) XP_011540945.1:n.732-25141C>T
XM_011542643.2:c.732-25141C>T (C11orf65) XP_011540945.1:n.732-25141C>T
XM_011542840.1:c.9168G>A (ATM) XP_011541142.1:p.Val3056=
XM_011542840.3:c.9168G>A (ATM) XP_011541142.1:p.Val3056=
XM_011542841.1:c.9168G>A (ATM) XP_011541143.1:p.Val3056=
XM_011542842.1:c.9003G>A (ATM) XP_011541144.1:p.Val3001=
XM_011542842.3:c.9003G>A (ATM) XP_011541144.1:p.Val3001=
XM_011542844.1:c.8124G>A (ATM) XP_011541146.1:p.Val2708=
XM_011542844.3:c.8124G>A (ATM) XP_011541146.1:p.Val2708=
XM_011542845.1:c.7860G>A (ATM) XP_011541147.1:p.Val2620=
XM_011542845.2:c.7860G>A (ATM) XP_011541147.1:p.Val2620=
XM_011542847.1:c.4239G>A (ATM) XP_011541149.1:p.Val1413=
XM_017017247.1:c.903+17555C>T (C11orf65) XP_016872736.1:n.903+17555C>T
XM_017017789.2:c.9168G>A (ATM) XP_016873278.1:p.Val3056=
XM_017017790.2:c.9168G>A (ATM) XP_016873279.1:p.Val3056=