Canonical Allele Identifier: CA476674862
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs2083496679
MyVariant Identifiers: chr11:g.108173585A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302858A>G , CM000673.2:g.108302858A>G GRCh38
NC_000011.9:g.108173585A>G , CM000673.1:g.108173585A>G GRCh37
NC_000011.8:g.107678795A>G NCBI36
NG_009830.1:g.85027A>G , LRG_135:g.85027A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5325A>G ENSP00000388058.2:p.Leu1775=
ENST00000713593.1:c.*4796A>G ENSP00000518889.1:n.*4796A>G
ENST00000278616.9:c.5325A>G ENSP00000278616.4:p.Leu1775=
ENST00000683174.1:n.6809A>G
ENST00000683524.1:n.549A>G
ENST00000684152.1:n.1039A>G
ENST00000527805.6:c.*389A>G ENSP00000435747.2:n.*389A>G
ENST00000675595.1:c.*389A>G ENSP00000502563.1:n.*389A>G
ENST00000675843.1:c.5325A>G MANE Select ENSP00000501606.1:p.Leu1775=
ENST00000278616.8:c.5325A>G ENSP00000278616.4:p.Leu1775=
ENST00000452508.6:c.5325A>G ENSP00000388058.2:p.Leu1775=
ENST00000524792.5:n.1540A>G
ENST00000533690.5:n.729A>G
ENST00000534625.1:n.554A>G
NM_000051.3:c.5325A>G , LRG_135t1:c.5325A>G NP_000042.3:p.Leu1775=
XM_005271561.3:c.5325A>G XP_005271618.2:p.Leu1775=
XM_005271562.3:c.5325A>G XP_005271619.2:p.Leu1775=
XM_006718843.2:c.5325A>G XP_006718906.1:p.Leu1775=
XM_006718845.1:c.1281A>G XP_006718908.1:p.Leu427=
XM_011542840.1:c.5325A>G XP_011541142.1:p.Leu1775=
XM_011542841.1:c.5325A>G XP_011541143.1:p.Leu1775=
XM_011542842.1:c.5160A>G XP_011541144.1:p.Leu1720=
XM_011542843.1:c.5325A>G XP_011541145.1:p.Leu1775=
XM_011542844.1:c.4281A>G XP_011541146.1:p.Leu1427=
XM_011542845.1:c.4017A>G XP_011541147.1:p.Leu1339=
XM_011542846.1:c.5326A>G XP_011541148.1:p.Arg1776Gly
XM_011542847.1:c.396A>G XP_011541149.1:p.Leu132=
NM_001351834.1:c.5325A>G NP_001338763.1:p.Leu1775=
XM_005271562.5:c.5325A>G XP_005271619.2:p.Leu1775=
XM_006718843.4:c.5325A>G XP_006718906.1:p.Leu1775=
XM_006718845.2:c.1281A>G XP_006718908.1:p.Leu427=
XM_011542840.3:c.5325A>G XP_011541142.1:p.Leu1775=
XM_011542842.3:c.5160A>G XP_011541144.1:p.Leu1720=
XM_011542843.2:c.5325A>G XP_011541145.1:p.Leu1775=
XM_011542844.3:c.4281A>G XP_011541146.1:p.Leu1427=
XM_011542845.2:c.4017A>G XP_011541147.1:p.Leu1339=
XM_017017789.2:c.5325A>G XP_016873278.1:p.Leu1775=
XM_017017790.2:c.5325A>G XP_016873279.1:p.Leu1775=
XM_017017791.1:c.5325A>G XP_016873280.1:p.Leu1775=
XM_017017792.2:c.*6A>G XP_016873281.1:n.*6A>G
XR_002957150.1:n.5925A>G
NM_001351834.2:c.5325A>G NP_001338763.1:p.Leu1775=
NM_000051.4:c.5325A>G MANE Select NP_000042.3:p.Leu1775=