Canonical Allele Identifier: CA476676704
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.108199825A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108329098A>T , CM000673.2:g.108329098A>T GRCh38
NC_000011.9:g.108199825A>T , CM000673.1:g.108199825A>T GRCh37
NC_000011.8:g.107705035A>T NCBI36
NG_009830.1:g.111267A>T , LRG_135:g.111267A>T
NG_054724.1:g.145735T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.7167A>T (ATM) ENSP00000388058.2:p.Ser2389=
ENST00000713593.1:c.*6638A>T (ATM) ENSP00000518889.1:n.*6638A>T
ENST00000278616.9:c.7167A>T (ATM) ENSP00000278616.4:p.Ser2389=
ENST00000525056.2:n.1586A>T (ATM)
ENST00000525537.3:n.124A>T (ATM)
ENST00000638786.2:n.4A>T (ATM)
ENST00000682286.1:n.1924A>T (ATM)
ENST00000682302.1:n.1585A>T (ATM)
ENST00000683174.1:n.8651A>T (ATM)
ENST00000683524.1:n.2391A>T (ATM)
ENST00000684152.1:n.2881A>T (ATM)
ENST00000684447.1:n.1630A>T (ATM)
ENST00000527805.6:c.*2231A>T (ATM) ENSP00000435747.2:n.*2231A>T
ENST00000675595.1:c.*2302A>T (ATM) ENSP00000502563.1:n.*2302A>T
ENST00000675843.1:c.7167A>T (ATM) MANE Select ENSP00000501606.1:p.Ser2389=
ENST00000278616.8:c.7167A>T (ATM) ENSP00000278616.4:p.Ser2389=
ENST00000452508.6:c.7167A>T (ATM) ENSP00000388058.2:p.Ser2389=
ENST00000524792.5:n.3382A>T (ATM)
ENST00000525537.2:n.443A>T (ATM)
ENST00000525729.5:c.641-20027T>A (C11orf65) ENSP00000433395.1:n.641-20027T>A
ENST00000527389.2:n.192A>T (ATM)
ENST00000533690.5:n.2571A>T (ATM)
NM_000051.3:c.7167A>T , LRG_135t1:c.7167A>T (ATM) NP_000042.3:p.Ser2389=
XM_005271561.3:c.7167A>T (ATM) XP_005271618.2:p.Ser2389=
XM_005271562.3:c.7167A>T (ATM) XP_005271619.2:p.Ser2389=
XM_006718843.2:c.7167A>T (ATM) XP_006718906.1:p.Ser2389=
XM_006718845.1:c.3123A>T (ATM) XP_006718908.1:p.Ser1041=
XM_011542840.1:c.7167A>T (ATM) XP_011541142.1:p.Ser2389=
XM_011542841.1:c.7167A>T (ATM) XP_011541143.1:p.Ser2389=
XM_011542842.1:c.7002A>T (ATM) XP_011541144.1:p.Ser2334=
XM_011542843.1:c.7167A>T (ATM) XP_011541145.1:p.Ser2389=
XM_011542844.1:c.6123A>T (ATM) XP_011541146.1:p.Ser2041=
XM_011542845.1:c.5859A>T (ATM) XP_011541147.1:p.Ser1953=
XM_011542847.1:c.2238A>T (ATM) XP_011541149.1:p.Ser746=
NM_001330368.1:c.641-20027T>A (C11orf65) NP_001317297.1:n.641-20027T>A
NM_001351110.1:c.*38+6122T>A (C11orf65) NP_001338039.1:n.*38+6122T>A
NM_001351834.1:c.7167A>T (ATM) NP_001338763.1:p.Ser2389=
XM_005271562.5:c.7167A>T (ATM) XP_005271619.2:p.Ser2389=
XM_006718843.4:c.7167A>T (ATM) XP_006718906.1:p.Ser2389=
XM_006718845.2:c.3123A>T (ATM) XP_006718908.1:p.Ser1041=
XM_011542840.3:c.7167A>T (ATM) XP_011541142.1:p.Ser2389=
XM_011542842.3:c.7002A>T (ATM) XP_011541144.1:p.Ser2334=
XM_011542843.2:c.7167A>T (ATM) XP_011541145.1:p.Ser2389=
XM_011542844.3:c.6123A>T (ATM) XP_011541146.1:p.Ser2041=
XM_011542845.2:c.5859A>T (ATM) XP_011541147.1:p.Ser1953=
XM_017017789.2:c.7167A>T (ATM) XP_016873278.1:p.Ser2389=
XM_017017790.2:c.7167A>T (ATM) XP_016873279.1:p.Ser2389=
NM_001330368.2:c.641-20027T>A (C11orf65) NP_001317297.1:n.641-20027T>A
NM_001351110.2:c.*38+6122T>A (C11orf65) NP_001338039.1:n.*38+6122T>A
NM_001351834.2:c.7167A>T (ATM) NP_001338763.1:p.Ser2389=
NM_000051.4:c.7167A>T (ATM) MANE Select NP_000042.3:p.Ser2389=