Canonical Allele Identifier: CA382533531

Gene: ATM

Linked Data

• dbSNP Id: rs2080092840
• COSMIC: COSM3443133 ; COSM3443134
• MyVariant Identifiers: chr11:g.108121480T>A (hg19) ; chr11:g.108250753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250753T>A , CM000673.2:g.108250753T>A	GRCh38
NC_000011.9:g.108121480T>A , CM000673.1:g.108121480T>A	GRCh37
NC_000011.8:g.107626690T>A	NCBI36
NG_009830.1:g.32922T>A , LRG_135:g.32922T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1288T>A	ENSP00000388058.2:p.Cys430Ser
ENST00000713593.1:c.*759T>A	ENSP00000518889.1:n.*759T>A
ENST00000278616.9:c.1288T>A	ENSP00000278616.4:p.Cys430Ser
ENST00000682516.1:n.1422T>A
ENST00000682956.1:n.1422T>A
ENST00000683174.1:n.1438T>A
ENST00000683605.1:n.783T>A
ENST00000684037.1:c.*223T>A	ENSP00000508245.1:n.*223T>A
ENST00000684061.1:n.1422T>A
ENST00000684179.1:n.1257T>A
ENST00000527805.6:c.1288T>A	ENSP00000435747.2:p.Cys430Ser
ENST00000675595.1:c.1123T>A	ENSP00000502563.1:p.Cys375Ser
ENST00000675843.1:c.1288T>A MANE Select	ENSP00000501606.1:p.Cys430Ser
ENST00000278616.8:c.1288T>A	ENSP00000278616.4:p.Cys430Ser
ENST00000452508.6:c.1288T>A	ENSP00000388058.2:p.Cys430Ser
ENST00000527805.5:c.1288T>A	ENSP00000435747.1:p.Cys430Ser
NM_000051.3:c.1288T>A , LRG_135t1:c.1288T>A	NP_000042.3:p.Cys430Ser
XM_005271561.3:c.1288T>A	XP_005271618.2:p.Cys430Ser
XM_005271562.3:c.1288T>A	XP_005271619.2:p.Cys430Ser
XM_006718843.2:c.1288T>A	XP_006718906.1:p.Cys430Ser
XM_011542840.1:c.1288T>A	XP_011541142.1:p.Cys430Ser
XM_011542841.1:c.1288T>A	XP_011541143.1:p.Cys430Ser
XM_011542842.1:c.1123T>A	XP_011541144.1:p.Cys375Ser
XM_011542843.1:c.1288T>A	XP_011541145.1:p.Cys430Ser
XM_011542844.1:c.244T>A	XP_011541146.1:p.Cys82Ser
XM_011542845.1:c.-21T>A	XP_011541147.1:n.-21T>A
XM_011542846.1:c.1288T>A	XP_011541148.1:p.Cys430Ser
NM_001351834.1:c.1288T>A	NP_001338763.1:p.Cys430Ser
XM_005271562.5:c.1288T>A	XP_005271619.2:p.Cys430Ser
XM_006718843.4:c.1288T>A	XP_006718906.1:p.Cys430Ser
XM_011542840.3:c.1288T>A	XP_011541142.1:p.Cys430Ser
XM_011542842.3:c.1123T>A	XP_011541144.1:p.Cys375Ser
XM_011542843.2:c.1288T>A	XP_011541145.1:p.Cys430Ser
XM_011542844.3:c.244T>A	XP_011541146.1:p.Cys82Ser
XM_011542845.2:c.-21T>A	XP_011541147.1:n.-21T>A
XM_017017789.2:c.1288T>A	XP_016873278.1:p.Cys430Ser
XM_017017790.2:c.1288T>A	XP_016873279.1:p.Cys430Ser
XM_017017791.1:c.1288T>A	XP_016873280.1:p.Cys430Ser
XM_017017792.2:c.1288T>A	XP_016873281.1:p.Cys430Ser
XR_002957150.1:n.2021T>A
NM_001351834.2:c.1288T>A	NP_001338763.1:p.Cys430Ser
NM_000051.4:c.1288T>A MANE Select	NP_000042.3:p.Cys430Ser