Canonical Allele Identifier: CA382530327

Gene: ATM

Linked Data

• ClinVar Variation Id: 453508
• ClinVar RCV Id: RCV000552264
• dbSNP Id: rs1555096955
• MyVariant Identifiers: chr11:g.108159789A>T (hg19) ; chr11:g.108289062A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289062A>T , CM000673.2:g.108289062A>T	GRCh38
NC_000011.9:g.108159789A>T , CM000673.1:g.108159789A>T	GRCh37
NC_000011.8:g.107664999A>T	NCBI36
NG_009830.1:g.71231A>T , LRG_135:g.71231A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4195A>T	ENSP00000388058.2:p.Thr1399Ser
ENST00000713593.1:c.*3666A>T	ENSP00000518889.1:n.*3666A>T
ENST00000278616.9:c.4195A>T	ENSP00000278616.4:p.Thr1399Ser
ENST00000533733.6:n.1458A>T
ENST00000683174.1:n.4345A>T
ENST00000527805.6:c.4195A>T	ENSP00000435747.2:p.Thr1399Ser
ENST00000675595.1:c.4030A>T	ENSP00000502563.1:p.Thr1344Ser
ENST00000675843.1:c.4195A>T MANE Select	ENSP00000501606.1:p.Thr1399Ser
ENST00000278616.8:c.4195A>T	ENSP00000278616.4:p.Thr1399Ser
ENST00000452508.6:c.4195A>T	ENSP00000388058.2:p.Thr1399Ser
ENST00000524792.5:n.410A>T
ENST00000531525.2:c.202A>T	ENSP00000434327.2:p.Thr68Ser
ENST00000533733.5:n.624A>T
NM_000051.3:c.4195A>T , LRG_135t1:c.4195A>T	NP_000042.3:p.Thr1399Ser
XM_005271561.3:c.4195A>T	XP_005271618.2:p.Thr1399Ser
XM_005271562.3:c.4195A>T	XP_005271619.2:p.Thr1399Ser
XM_006718843.2:c.4195A>T	XP_006718906.1:p.Thr1399Ser
XM_006718845.1:c.151A>T	XP_006718908.1:p.Thr51Ser
XM_011542840.1:c.4195A>T	XP_011541142.1:p.Thr1399Ser
XM_011542841.1:c.4195A>T	XP_011541143.1:p.Thr1399Ser
XM_011542842.1:c.4030A>T	XP_011541144.1:p.Thr1344Ser
XM_011542843.1:c.4195A>T	XP_011541145.1:p.Thr1399Ser
XM_011542844.1:c.3151A>T	XP_011541146.1:p.Thr1051Ser
XM_011542845.1:c.2887A>T	XP_011541147.1:p.Thr963Ser
XM_011542846.1:c.4195A>T	XP_011541148.1:p.Thr1399Ser
NM_001351834.1:c.4195A>T	NP_001338763.1:p.Thr1399Ser
XM_005271562.5:c.4195A>T	XP_005271619.2:p.Thr1399Ser
XM_006718843.4:c.4195A>T	XP_006718906.1:p.Thr1399Ser
XM_006718845.2:c.151A>T	XP_006718908.1:p.Thr51Ser
XM_011542840.3:c.4195A>T	XP_011541142.1:p.Thr1399Ser
XM_011542842.3:c.4030A>T	XP_011541144.1:p.Thr1344Ser
XM_011542843.2:c.4195A>T	XP_011541145.1:p.Thr1399Ser
XM_011542844.3:c.3151A>T	XP_011541146.1:p.Thr1051Ser
XM_011542845.2:c.2887A>T	XP_011541147.1:p.Thr963Ser
XM_017017789.2:c.4195A>T	XP_016873278.1:p.Thr1399Ser
XM_017017790.2:c.4195A>T	XP_016873279.1:p.Thr1399Ser
XM_017017791.1:c.4195A>T	XP_016873280.1:p.Thr1399Ser
XM_017017792.2:c.4195A>T	XP_016873281.1:p.Thr1399Ser
XR_002957150.1:n.4928A>T
NM_001351834.2:c.4195A>T	NP_001338763.1:p.Thr1399Ser
NM_000051.4:c.4195A>T MANE Select	NP_000042.3:p.Thr1399Ser