Canonical Allele Identifier: CA157195
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 132685
dbSNP Id: rs3218707

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108244000G>C , CM000673.2:g.108244000G>C GRCh38
NC_000011.9:g.108114727G>C , CM000673.1:g.108114727G>C GRCh37
NC_000011.8:g.107619937G>C NCBI36
NG_009830.1:g.26169G>C , LRG_135:g.26169G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000527805.6:c.544G>C ENSP00000435747.2:p.Val182Leu
ENST00000675595.1:c.379G>C ENSP00000502563.1:p.Val127Leu
ENST00000675843.1:c.544G>C MANE Select ENSP00000501606.1:p.Val182Leu
ENST00000278616.8:c.544G>C ENSP00000278616.4:p.Val182Leu
ENST00000452508.6:c.544G>C ENSP00000388058.2:p.Val182Leu
ENST00000527805.5:c.544G>C ENSP00000435747.1:p.Val182Leu
ENST00000527891.5:c.379G>C ENSP00000433955.1:p.Val127Leu
NM_000051.3:c.544G>C , LRG_135t1:c.544G>C NP_000042.3:p.Val182Leu
XM_005271561.3:c.544G>C XP_005271618.2:p.Val182Leu
XM_005271562.3:c.544G>C XP_005271619.2:p.Val182Leu
XM_006718843.2:c.544G>C XP_006718906.1:p.Val182Leu
XM_011542840.1:c.544G>C XP_011541142.1:p.Val182Leu
XM_011542841.1:c.544G>C XP_011541143.1:p.Val182Leu
XM_011542842.1:c.379G>C XP_011541144.1:p.Val127Leu
XM_011542843.1:c.544G>C XP_011541145.1:p.Val182Leu
XM_011542844.1:c.-501G>C XP_011541146.1:p.=
XM_011542846.1:c.544G>C XP_011541148.1:p.Val182Leu
NM_001351834.1:c.544G>C NP_001338763.1:p.Val182Leu
XM_005271562.5:c.544G>C XP_005271619.2:p.Val182Leu
XM_006718843.4:c.544G>C XP_006718906.1:p.Val182Leu
XM_011542840.3:c.544G>C XP_011541142.1:p.Val182Leu
XM_011542842.3:c.379G>C XP_011541144.1:p.Val127Leu
XM_011542843.2:c.544G>C XP_011541145.1:p.Val182Leu
XM_011542844.3:c.-501G>C XP_011541146.1:p.=
XM_017017789.2:c.544G>C XP_016873278.1:p.Val182Leu
XM_017017790.2:c.544G>C XP_016873279.1:p.Val182Leu
XM_017017791.1:c.544G>C XP_016873280.1:p.Val182Leu
XM_017017792.2:c.544G>C XP_016873281.1:p.Val182Leu
NM_001351834.2:c.544G>C NP_001338763.1:p.Val182Leu
NM_000051.4:c.544G>C MANE Select NP_000042.3:p.Val182Leu