Canonical Allele Identifier: CA16613154

Gene: ATM

Linked Data

• ClinVar Variation Id: 414535
• ClinVar RCV Id: RCV001414822
• dbSNP Id: rs1060504268
• MyVariant Identifiers: chr11:g.108175428A>C (hg19) ; chr11:g.108304701A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304701A>C , CM000673.2:g.108304701A>C	GRCh38
NC_000011.9:g.108175428A>C , CM000673.1:g.108175428A>C	GRCh37
NC_000011.8:g.107680638A>C	NCBI36
NG_009830.1:g.86870A>C , LRG_135:g.86870A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5523A>C	ENSP00000388058.2:p.Val1841=
ENST00000713593.1:c.*4994A>C	ENSP00000518889.1:n.*4994A>C
ENST00000278616.9:c.5523A>C	ENSP00000278616.4:p.Val1841=
ENST00000683174.1:n.7007A>C
ENST00000683524.1:n.747A>C
ENST00000684152.1:n.1237A>C
ENST00000527805.6:c.*587A>C	ENSP00000435747.2:n.*587A>C
ENST00000675595.1:c.*587A>C	ENSP00000502563.1:n.*587A>C
ENST00000675843.1:c.5523A>C MANE Select	ENSP00000501606.1:p.Val1841=
ENST00000278616.8:c.5523A>C	ENSP00000278616.4:p.Val1841=
ENST00000452508.6:c.5523A>C	ENSP00000388058.2:p.Val1841=
ENST00000524792.5:n.1738A>C
ENST00000529588.5:c.35A>C
ENST00000533690.5:n.927A>C
NM_000051.3:c.5523A>C , LRG_135t1:c.5523A>C	NP_000042.3:p.Val1841=
XM_005271561.3:c.5523A>C	XP_005271618.2:p.Val1841=
XM_005271562.3:c.5523A>C	XP_005271619.2:p.Val1841=
XM_006718843.2:c.5523A>C	XP_006718906.1:p.Val1841=
XM_006718845.1:c.1479A>C	XP_006718908.1:p.Val493=
XM_011542840.1:c.5523A>C	XP_011541142.1:p.Val1841=
XM_011542841.1:c.5523A>C	XP_011541143.1:p.Val1841=
XM_011542842.1:c.5358A>C	XP_011541144.1:p.Val1786=
XM_011542843.1:c.5523A>C	XP_011541145.1:p.Val1841=
XM_011542844.1:c.4479A>C	XP_011541146.1:p.Val1493=
XM_011542845.1:c.4215A>C	XP_011541147.1:p.Val1405=
XM_011542847.1:c.594A>C	XP_011541149.1:p.Val198=
NM_001351834.1:c.5523A>C	NP_001338763.1:p.Val1841=
XM_005271562.5:c.5523A>C	XP_005271619.2:p.Val1841=
XM_006718843.4:c.5523A>C	XP_006718906.1:p.Val1841=
XM_006718845.2:c.1479A>C	XP_006718908.1:p.Val493=
XM_011542840.3:c.5523A>C	XP_011541142.1:p.Val1841=
XM_011542842.3:c.5358A>C	XP_011541144.1:p.Val1786=
XM_011542843.2:c.5523A>C	XP_011541145.1:p.Val1841=
XM_011542844.3:c.4479A>C	XP_011541146.1:p.Val1493=
XM_011542845.2:c.4215A>C	XP_011541147.1:p.Val1405=
XM_017017789.2:c.5523A>C	XP_016873278.1:p.Val1841=
XM_017017790.2:c.5523A>C	XP_016873279.1:p.Val1841=
XM_017017791.1:c.5523A>C	XP_016873280.1:p.Val1841=
XR_002957150.1:n.6123A>C
NM_001351834.2:c.5523A>C	NP_001338763.1:p.Val1841=
NM_000051.4:c.5523A>C MANE Select	NP_000042.3:p.Val1841=