Canonical Allele Identifier: CA476676708
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2136415246
MyVariant Identifiers: chr11:g.108199831C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108329104C>G , CM000673.2:g.108329104C>G GRCh38
NC_000011.9:g.108199831C>G , CM000673.1:g.108199831C>G GRCh37
NC_000011.8:g.107705041C>G NCBI36
NG_009830.1:g.111273C>G , LRG_135:g.111273C>G
NG_054724.1:g.145729G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7173C>G (ATM) ENSP00000388058.2:p.Ala2391=
ENST00000713593.1:c.*6644C>G (ATM) ENSP00000518889.1:n.*6644C>G
ENST00000278616.9:c.7173C>G (ATM) ENSP00000278616.4:p.Ala2391=
ENST00000525056.2:n.1592C>G (ATM)
ENST00000525537.3:n.130C>G (ATM)
ENST00000638786.2:n.10C>G (ATM)
ENST00000682286.1:n.1930C>G (ATM)
ENST00000682302.1:n.1591C>G (ATM)
ENST00000683174.1:n.8657C>G (ATM)
ENST00000683524.1:n.2397C>G (ATM)
ENST00000684152.1:n.2887C>G (ATM)
ENST00000684447.1:n.1636C>G (ATM)
ENST00000527805.6:c.*2237C>G (ATM) ENSP00000435747.2:n.*2237C>G
ENST00000675595.1:c.*2308C>G (ATM) ENSP00000502563.1:n.*2308C>G
ENST00000675843.1:c.7173C>G (ATM) MANE Select ENSP00000501606.1:p.Ala2391=
ENST00000278616.8:c.7173C>G (ATM) ENSP00000278616.4:p.Ala2391=
ENST00000452508.6:c.7173C>G (ATM) ENSP00000388058.2:p.Ala2391=
ENST00000524792.5:n.3388C>G (ATM)
ENST00000525537.2:n.449C>G (ATM)
ENST00000525729.5:c.641-20033G>C (C11orf65) ENSP00000433395.1:n.641-20033G>C
ENST00000527389.2:n.198C>G (ATM)
ENST00000533690.5:n.2577C>G (ATM)
NM_000051.3:c.7173C>G , LRG_135t1:c.7173C>G (ATM) NP_000042.3:p.Ala2391=
XM_005271561.3:c.7173C>G (ATM) XP_005271618.2:p.Ala2391=
XM_005271562.3:c.7173C>G (ATM) XP_005271619.2:p.Ala2391=
XM_006718843.2:c.7173C>G (ATM) XP_006718906.1:p.Ala2391=
XM_006718845.1:c.3129C>G (ATM) XP_006718908.1:p.Ala1043=
XM_011542840.1:c.7173C>G (ATM) XP_011541142.1:p.Ala2391=
XM_011542841.1:c.7173C>G (ATM) XP_011541143.1:p.Ala2391=
XM_011542842.1:c.7008C>G (ATM) XP_011541144.1:p.Ala2336=
XM_011542843.1:c.7173C>G (ATM) XP_011541145.1:p.Ala2391=
XM_011542844.1:c.6129C>G (ATM) XP_011541146.1:p.Ala2043=
XM_011542845.1:c.5865C>G (ATM) XP_011541147.1:p.Ala1955=
XM_011542847.1:c.2244C>G (ATM) XP_011541149.1:p.Ala748=
NM_001330368.1:c.641-20033G>C (C11orf65) NP_001317297.1:n.641-20033G>C
NM_001351110.1:c.*38+6116G>C (C11orf65) NP_001338039.1:n.*38+6116G>C
NM_001351834.1:c.7173C>G (ATM) NP_001338763.1:p.Ala2391=
XM_005271562.5:c.7173C>G (ATM) XP_005271619.2:p.Ala2391=
XM_006718843.4:c.7173C>G (ATM) XP_006718906.1:p.Ala2391=
XM_006718845.2:c.3129C>G (ATM) XP_006718908.1:p.Ala1043=
XM_011542840.3:c.7173C>G (ATM) XP_011541142.1:p.Ala2391=
XM_011542842.3:c.7008C>G (ATM) XP_011541144.1:p.Ala2336=
XM_011542843.2:c.7173C>G (ATM) XP_011541145.1:p.Ala2391=
XM_011542844.3:c.6129C>G (ATM) XP_011541146.1:p.Ala2043=
XM_011542845.2:c.5865C>G (ATM) XP_011541147.1:p.Ala1955=
XM_017017789.2:c.7173C>G (ATM) XP_016873278.1:p.Ala2391=
XM_017017790.2:c.7173C>G (ATM) XP_016873279.1:p.Ala2391=
NM_001330368.2:c.641-20033G>C (C11orf65) NP_001317297.1:n.641-20033G>C
NM_001351110.2:c.*38+6116G>C (C11orf65) NP_001338039.1:n.*38+6116G>C
NM_001351834.2:c.7173C>G (ATM) NP_001338763.1:p.Ala2391=
NM_000051.4:c.7173C>G (ATM) MANE Select NP_000042.3:p.Ala2391=