Canonical Allele Identifier: CA382532144
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2496722
ClinVar RCV Id: RCV003216299
dbSNP Id: rs2135764899

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108289749G>C , CM000673.2:g.108289749G>C GRCh38
NC_000011.9:g.108160476G>C , CM000673.1:g.108160476G>C GRCh37
NC_000011.8:g.107665686G>C NCBI36
NG_009830.1:g.71918G>C , LRG_135:g.71918G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4384G>C ENSP00000388058.2:p.Ala1462Pro
ENST00000713593.1:c.*3855G>C ENSP00000518889.1:n.*3855G>C
ENST00000278616.9:c.4384G>C ENSP00000278616.4:p.Ala1462Pro
ENST00000533733.6:n.1647G>C
ENST00000683174.1:n.4534G>C
ENST00000527805.6:c.4384G>C ENSP00000435747.2:p.Ala1462Pro
ENST00000675595.1:c.4219G>C ENSP00000502563.1:p.Ala1407Pro
ENST00000675843.1:c.4384G>C MANE Select ENSP00000501606.1:p.Ala1462Pro
ENST00000278616.8:c.4384G>C ENSP00000278616.4:p.Ala1462Pro
ENST00000452508.6:c.4384G>C ENSP00000388058.2:p.Ala1462Pro
ENST00000524792.5:n.599G>C
ENST00000531525.2:c.391G>C ENSP00000434327.2:p.Ala131Pro
ENST00000533733.5:n.813G>C
NM_000051.3:c.4384G>C , LRG_135t1:c.4384G>C NP_000042.3:p.Ala1462Pro
XM_005271561.3:c.4384G>C XP_005271618.2:p.Ala1462Pro
XM_005271562.3:c.4384G>C XP_005271619.2:p.Ala1462Pro
XM_006718843.2:c.4384G>C XP_006718906.1:p.Ala1462Pro
XM_006718845.1:c.340G>C XP_006718908.1:p.Ala114Pro
XM_011542840.1:c.4384G>C XP_011541142.1:p.Ala1462Pro
XM_011542841.1:c.4384G>C XP_011541143.1:p.Ala1462Pro
XM_011542842.1:c.4219G>C XP_011541144.1:p.Ala1407Pro
XM_011542843.1:c.4384G>C XP_011541145.1:p.Ala1462Pro
XM_011542844.1:c.3340G>C XP_011541146.1:p.Ala1114Pro
XM_011542845.1:c.3076G>C XP_011541147.1:p.Ala1026Pro
XM_011542846.1:c.4384G>C XP_011541148.1:p.Ala1462Pro
NM_001351834.1:c.4384G>C NP_001338763.1:p.Ala1462Pro
XM_005271562.5:c.4384G>C XP_005271619.2:p.Ala1462Pro
XM_006718843.4:c.4384G>C XP_006718906.1:p.Ala1462Pro
XM_006718845.2:c.340G>C XP_006718908.1:p.Ala114Pro
XM_011542840.3:c.4384G>C XP_011541142.1:p.Ala1462Pro
XM_011542842.3:c.4219G>C XP_011541144.1:p.Ala1407Pro
XM_011542843.2:c.4384G>C XP_011541145.1:p.Ala1462Pro
XM_011542844.3:c.3340G>C XP_011541146.1:p.Ala1114Pro
XM_011542845.2:c.3076G>C XP_011541147.1:p.Ala1026Pro
XM_017017789.2:c.4384G>C XP_016873278.1:p.Ala1462Pro
XM_017017790.2:c.4384G>C XP_016873279.1:p.Ala1462Pro
XM_017017791.1:c.4384G>C XP_016873280.1:p.Ala1462Pro
XM_017017792.2:c.4384G>C XP_016873281.1:p.Ala1462Pro
XR_002957150.1:n.5117G>C
NM_001351834.2:c.4384G>C NP_001338763.1:p.Ala1462Pro
NM_000051.4:c.4384G>C MANE Select NP_000042.3:p.Ala1462Pro