Canonical Allele Identifier: CA192923

Gene: ATM

Linked Data

• ClinVar Variation Id: 135763
• ClinVar RCV Id: RCV000122862 ; RCV000165264 ; RCV000254428 ; RCV001356581 ; RCV001682838 ; RCV003315808
• dbSNP Id: rs587780630
• ExAC: 11:108114774 A / T
• gnomAD v2: 11-108114774-A-T
• gnomAD v3: 11-108244047-A-T
• gnomAD v4: 11-108244047-A-T
• MyVariant Identifiers: chr11:g.108114774A>T (hg19) ; chr11:g.108244047A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244047A>T , CM000673.2:g.108244047A>T	GRCh38
NC_000011.9:g.108114774A>T , CM000673.1:g.108114774A>T	GRCh37
NC_000011.8:g.107619984A>T	NCBI36
NG_009830.1:g.26216A>T , LRG_135:g.26216A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.591A>T	ENSP00000388058.2:p.Gly197=
ENST00000713593.1:c.*62A>T	ENSP00000518889.1:n.*62A>T
ENST00000278616.9:c.591A>T	ENSP00000278616.4:p.Gly197=
ENST00000682430.1:n.690A>T
ENST00000682516.1:n.725A>T
ENST00000682956.1:n.725A>T
ENST00000683100.1:n.2269A>T
ENST00000683174.1:n.741A>T
ENST00000683605.1:n.86A>T
ENST00000684037.1:c.591A>T	ENSP00000508245.1:p.Gly197=
ENST00000684061.1:n.725A>T
ENST00000684179.1:n.560A>T
ENST00000527805.6:c.591A>T	ENSP00000435747.2:p.Gly197=
ENST00000675595.1:c.426A>T	ENSP00000502563.1:p.Gly142=
ENST00000675843.1:c.591A>T MANE Select	ENSP00000501606.1:p.Gly197=
ENST00000278616.8:c.591A>T	ENSP00000278616.4:p.Gly197=
ENST00000452508.6:c.591A>T	ENSP00000388058.2:p.Gly197=
ENST00000527805.5:c.591A>T	ENSP00000435747.1:p.Gly197=
ENST00000527891.5:c.426A>T	ENSP00000433955.1:p.Gly142=
NM_000051.3:c.591A>T , LRG_135t1:c.591A>T	NP_000042.3:p.Gly197=
XM_005271561.3:c.591A>T	XP_005271618.2:p.Gly197=
XM_005271562.3:c.591A>T	XP_005271619.2:p.Gly197=
XM_006718843.2:c.591A>T	XP_006718906.1:p.Gly197=
XM_011542840.1:c.591A>T	XP_011541142.1:p.Gly197=
XM_011542841.1:c.591A>T	XP_011541143.1:p.Gly197=
XM_011542842.1:c.426A>T	XP_011541144.1:p.Gly142=
XM_011542843.1:c.591A>T	XP_011541145.1:p.Gly197=
XM_011542844.1:c.-454A>T	XP_011541146.1:n.-454A>T
XM_011542846.1:c.591A>T	XP_011541148.1:p.Gly197=
NM_001351834.1:c.591A>T	NP_001338763.1:p.Gly197=
XM_005271562.5:c.591A>T	XP_005271619.2:p.Gly197=
XM_006718843.4:c.591A>T	XP_006718906.1:p.Gly197=
XM_011542840.3:c.591A>T	XP_011541142.1:p.Gly197=
XM_011542842.3:c.426A>T	XP_011541144.1:p.Gly142=
XM_011542843.2:c.591A>T	XP_011541145.1:p.Gly197=
XM_011542844.3:c.-454A>T	XP_011541146.1:n.-454A>T
XM_017017789.2:c.591A>T	XP_016873278.1:p.Gly197=
XM_017017790.2:c.591A>T	XP_016873279.1:p.Gly197=
XM_017017791.1:c.591A>T	XP_016873280.1:p.Gly197=
XM_017017792.2:c.591A>T	XP_016873281.1:p.Gly197=
XR_002957150.1:n.1324A>T
NM_001351834.2:c.591A>T	NP_001338763.1:p.Gly197=
NM_000051.4:c.591A>T MANE Select	NP_000042.3:p.Gly197=