Canonical Allele Identifier: CA382546491

Gene: ATM

Linked Data

• ClinVar Variation Id: 453594
• ClinVar RCV Id: RCV001181314 ; RCV000559863
• dbSNP Id: rs1555107562
• gnomAD v4: 11-108304828-A-G
• MyVariant Identifiers: chr11:g.108175555A>G (hg19) ; chr11:g.108304828A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304828A>G , CM000673.2:g.108304828A>G	GRCh38
NC_000011.9:g.108175555A>G , CM000673.1:g.108175555A>G	GRCh37
NC_000011.8:g.107680765A>G	NCBI36
NG_009830.1:g.86997A>G , LRG_135:g.86997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5650A>G	ENSP00000388058.2:p.Thr1884Ala
ENST00000713593.1:c.*5121A>G	ENSP00000518889.1:n.*5121A>G
ENST00000278616.9:c.5650A>G	ENSP00000278616.4:p.Thr1884Ala
ENST00000683174.1:n.7134A>G
ENST00000683524.1:n.874A>G
ENST00000684152.1:n.1364A>G
ENST00000527805.6:c.*714A>G	ENSP00000435747.2:n.*714A>G
ENST00000675595.1:c.*714A>G	ENSP00000502563.1:n.*714A>G
ENST00000675843.1:c.5650A>G MANE Select	ENSP00000501606.1:p.Thr1884Ala
ENST00000278616.8:c.5650A>G	ENSP00000278616.4:p.Thr1884Ala
ENST00000452508.6:c.5650A>G	ENSP00000388058.2:p.Thr1884Ala
ENST00000524792.5:n.1865A>G
ENST00000529588.5:c.162A>G
ENST00000533690.5:n.1054A>G
NM_000051.3:c.5650A>G , LRG_135t1:c.5650A>G	NP_000042.3:p.Thr1884Ala
XM_005271561.3:c.5650A>G	XP_005271618.2:p.Thr1884Ala
XM_005271562.3:c.5650A>G	XP_005271619.2:p.Thr1884Ala
XM_006718843.2:c.5650A>G	XP_006718906.1:p.Thr1884Ala
XM_006718845.1:c.1606A>G	XP_006718908.1:p.Thr536Ala
XM_011542840.1:c.5650A>G	XP_011541142.1:p.Thr1884Ala
XM_011542841.1:c.5650A>G	XP_011541143.1:p.Thr1884Ala
XM_011542842.1:c.5485A>G	XP_011541144.1:p.Thr1829Ala
XM_011542843.1:c.5650A>G	XP_011541145.1:p.Thr1884Ala
XM_011542844.1:c.4606A>G	XP_011541146.1:p.Thr1536Ala
XM_011542845.1:c.4342A>G	XP_011541147.1:p.Thr1448Ala
XM_011542847.1:c.721A>G	XP_011541149.1:p.Thr241Ala
NM_001351834.1:c.5650A>G	NP_001338763.1:p.Thr1884Ala
XM_005271562.5:c.5650A>G	XP_005271619.2:p.Thr1884Ala
XM_006718843.4:c.5650A>G	XP_006718906.1:p.Thr1884Ala
XM_006718845.2:c.1606A>G	XP_006718908.1:p.Thr536Ala
XM_011542840.3:c.5650A>G	XP_011541142.1:p.Thr1884Ala
XM_011542842.3:c.5485A>G	XP_011541144.1:p.Thr1829Ala
XM_011542843.2:c.5650A>G	XP_011541145.1:p.Thr1884Ala
XM_011542844.3:c.4606A>G	XP_011541146.1:p.Thr1536Ala
XM_011542845.2:c.4342A>G	XP_011541147.1:p.Thr1448Ala
XM_017017789.2:c.5650A>G	XP_016873278.1:p.Thr1884Ala
XM_017017790.2:c.5650A>G	XP_016873279.1:p.Thr1884Ala
XM_017017791.1:c.5650A>G	XP_016873280.1:p.Thr1884Ala
XR_002957150.1:n.6250A>G
NM_001351834.2:c.5650A>G	NP_001338763.1:p.Thr1884Ala
NM_000051.4:c.5650A>G MANE Select	NP_000042.3:p.Thr1884Ala