Canonical Allele Identifier: CA298194

Gene: ATM

Linked Data

• ClinVar Variation Id: 181938
• ClinVar RCV Id: RCV000159705 ; RCV000234598 ; RCV001180649
• dbSNP Id: rs730881355
• gnomAD v4: 11-108272539-A-T
• MyVariant Identifiers: chr11:g.108143266A>T (hg19) ; chr11:g.108272539A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108272539A>T , CM000673.2:g.108272539A>T	GRCh38
NC_000011.9:g.108143266A>T , CM000673.1:g.108143266A>T	GRCh37
NC_000011.8:g.107648476A>T	NCBI36
NG_009830.1:g.54708A>T , LRG_135:g.54708A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3085A>T	ENSP00000388058.2:p.Thr1029Ser
ENST00000713593.1:c.*2556A>T	ENSP00000518889.1:n.*2556A>T
ENST00000278616.9:c.3085A>T	ENSP00000278616.4:p.Thr1029Ser
ENST00000683174.1:n.3235A>T
ENST00000527805.6:c.3085A>T	ENSP00000435747.2:p.Thr1029Ser
ENST00000675595.1:c.2920A>T	ENSP00000502563.1:p.Thr974Ser
ENST00000675843.1:c.3085A>T MANE Select	ENSP00000501606.1:p.Thr1029Ser
ENST00000278616.8:c.3085A>T	ENSP00000278616.4:p.Thr1029Ser
ENST00000452508.6:c.3085A>T	ENSP00000388058.2:p.Thr1029Ser
ENST00000527805.5:c.3085A>T	ENSP00000435747.1:p.Thr1029Ser
NM_000051.3:c.3085A>T , LRG_135t1:c.3085A>T	NP_000042.3:p.Thr1029Ser
XM_005271561.3:c.3085A>T	XP_005271618.2:p.Thr1029Ser
XM_005271562.3:c.3085A>T	XP_005271619.2:p.Thr1029Ser
XM_006718843.2:c.3085A>T	XP_006718906.1:p.Thr1029Ser
XM_011542840.1:c.3085A>T	XP_011541142.1:p.Thr1029Ser
XM_011542841.1:c.3085A>T	XP_011541143.1:p.Thr1029Ser
XM_011542842.1:c.2920A>T	XP_011541144.1:p.Thr974Ser
XM_011542843.1:c.3085A>T	XP_011541145.1:p.Thr1029Ser
XM_011542844.1:c.2041A>T	XP_011541146.1:p.Thr681Ser
XM_011542845.1:c.1777A>T	XP_011541147.1:p.Thr593Ser
XM_011542846.1:c.3085A>T	XP_011541148.1:p.Thr1029Ser
NM_001351834.1:c.3085A>T	NP_001338763.1:p.Thr1029Ser
XM_005271562.5:c.3085A>T	XP_005271619.2:p.Thr1029Ser
XM_006718843.4:c.3085A>T	XP_006718906.1:p.Thr1029Ser
XM_011542840.3:c.3085A>T	XP_011541142.1:p.Thr1029Ser
XM_011542842.3:c.2920A>T	XP_011541144.1:p.Thr974Ser
XM_011542843.2:c.3085A>T	XP_011541145.1:p.Thr1029Ser
XM_011542844.3:c.2041A>T	XP_011541146.1:p.Thr681Ser
XM_011542845.2:c.1777A>T	XP_011541147.1:p.Thr593Ser
XM_017017789.2:c.3085A>T	XP_016873278.1:p.Thr1029Ser
XM_017017790.2:c.3085A>T	XP_016873279.1:p.Thr1029Ser
XM_017017791.1:c.3085A>T	XP_016873280.1:p.Thr1029Ser
XM_017017792.2:c.3085A>T	XP_016873281.1:p.Thr1029Ser
XR_002957150.1:n.3818A>T
NM_001351834.2:c.3085A>T	NP_001338763.1:p.Thr1029Ser
NM_000051.4:c.3085A>T MANE Select	NP_000042.3:p.Thr1029Ser