Canonical Allele Identifier: CA228388283
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 453573
dbSNP Id: rs768820804

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302856T>G , CM000673.2:g.108302856T>G GRCh38
NC_000011.9:g.108173583T>G , CM000673.1:g.108173583T>G GRCh37
NC_000011.8:g.107678793T>G NCBI36
NG_009830.1:g.85025T>G , LRG_135:g.85025T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5323T>G ENSP00000388058.2:p.Leu1775Val
ENST00000713593.1:c.*4794T>G ENSP00000518889.1:n.*4794T>G
ENST00000278616.9:c.5323T>G ENSP00000278616.4:p.Leu1775Val
ENST00000683174.1:n.6807T>G
ENST00000683524.1:n.547T>G
ENST00000684152.1:n.1037T>G
ENST00000527805.6:c.*387T>G ENSP00000435747.2:n.*387T>G
ENST00000675595.1:c.*387T>G ENSP00000502563.1:n.*387T>G
ENST00000675843.1:c.5323T>G MANE Select ENSP00000501606.1:p.Leu1775Val
ENST00000278616.8:c.5323T>G ENSP00000278616.4:p.Leu1775Val
ENST00000452508.6:c.5323T>G ENSP00000388058.2:p.Leu1775Val
ENST00000524792.5:n.1538T>G
ENST00000533690.5:n.727T>G
ENST00000534625.1:n.552T>G
NM_000051.3:c.5323T>G , LRG_135t1:c.5323T>G NP_000042.3:p.Leu1775Val
XM_005271561.3:c.5323T>G XP_005271618.2:p.Leu1775Val
XM_005271562.3:c.5323T>G XP_005271619.2:p.Leu1775Val
XM_006718843.2:c.5323T>G XP_006718906.1:p.Leu1775Val
XM_006718845.1:c.1279T>G XP_006718908.1:p.Leu427Val
XM_011542840.1:c.5323T>G XP_011541142.1:p.Leu1775Val
XM_011542841.1:c.5323T>G XP_011541143.1:p.Leu1775Val
XM_011542842.1:c.5158T>G XP_011541144.1:p.Leu1720Val
XM_011542843.1:c.5323T>G XP_011541145.1:p.Leu1775Val
XM_011542844.1:c.4279T>G XP_011541146.1:p.Leu1427Val
XM_011542845.1:c.4015T>G XP_011541147.1:p.Leu1339Val
XM_011542846.1:c.5324T>G XP_011541148.1:p.Phe1775Cys
XM_011542847.1:c.394T>G XP_011541149.1:p.Leu132Val
NM_001351834.1:c.5323T>G NP_001338763.1:p.Leu1775Val
XM_005271562.5:c.5323T>G XP_005271619.2:p.Leu1775Val
XM_006718843.4:c.5323T>G XP_006718906.1:p.Leu1775Val
XM_006718845.2:c.1279T>G XP_006718908.1:p.Leu427Val
XM_011542840.3:c.5323T>G XP_011541142.1:p.Leu1775Val
XM_011542842.3:c.5158T>G XP_011541144.1:p.Leu1720Val
XM_011542843.2:c.5323T>G XP_011541145.1:p.Leu1775Val
XM_011542844.3:c.4279T>G XP_011541146.1:p.Leu1427Val
XM_011542845.2:c.4015T>G XP_011541147.1:p.Leu1339Val
XM_017017789.2:c.5323T>G XP_016873278.1:p.Leu1775Val
XM_017017790.2:c.5323T>G XP_016873279.1:p.Leu1775Val
XM_017017791.1:c.5323T>G XP_016873280.1:p.Leu1775Val
XM_017017792.2:c.*4T>G XP_016873281.1:n.*4T>G
XR_002957150.1:n.5923T>G
NM_001351834.2:c.5323T>G NP_001338763.1:p.Leu1775Val
NM_000051.4:c.5323T>G MANE Select NP_000042.3:p.Leu1775Val