Canonical Allele Identifier: CA286894

Gene: ATM

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108303022T>C , CM000673.2:g.108303022T>C	GRCh38
NC_000011.9:g.108173749T>C , CM000673.1:g.108173749T>C	GRCh37
NC_000011.8:g.107678959T>C	NCBI36
NG_009830.1:g.85191T>C , LRG_135:g.85191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5489T>C	ENSP00000388058.2:p.Met1830Thr
ENST00000713593.1:c.*4960T>C	ENSP00000518889.1:n.*4960T>C
ENST00000278616.9:c.5489T>C	ENSP00000278616.4:p.Met1830Thr
ENST00000683174.1:n.6973T>C
ENST00000683524.1:n.713T>C
ENST00000684152.1:n.1203T>C
ENST00000527805.6:c.*553T>C	ENSP00000435747.2:n.*553T>C
ENST00000675595.1:c.*553T>C	ENSP00000502563.1:n.*553T>C
ENST00000675843.1:c.5489T>C MANE Select	ENSP00000501606.1:p.Met1830Thr
ENST00000278616.8:c.5489T>C	ENSP00000278616.4:p.Met1830Thr
ENST00000452508.6:c.5489T>C	ENSP00000388058.2:p.Met1830Thr
ENST00000524792.5:n.1704T>C
ENST00000529588.5:c.1T>C
ENST00000533690.5:n.893T>C
ENST00000534625.1:n.718T>C
NM_000051.3:c.5489T>C , LRG_135t1:c.5489T>C	NP_000042.3:p.Met1830Thr
XM_005271561.3:c.5489T>C	XP_005271618.2:p.Met1830Thr
XM_005271562.3:c.5489T>C	XP_005271619.2:p.Met1830Thr
XM_006718843.2:c.5489T>C	XP_006718906.1:p.Met1830Thr
XM_006718845.1:c.1445T>C	XP_006718908.1:p.Met482Thr
XM_011542840.1:c.5489T>C	XP_011541142.1:p.Met1830Thr
XM_011542841.1:c.5489T>C	XP_011541143.1:p.Met1830Thr
XM_011542842.1:c.5324T>C	XP_011541144.1:p.Met1775Thr
XM_011542843.1:c.5489T>C	XP_011541145.1:p.Met1830Thr
XM_011542844.1:c.4445T>C	XP_011541146.1:p.Met1482Thr
XM_011542845.1:c.4181T>C	XP_011541147.1:p.Met1394Thr
XM_011542847.1:c.560T>C	XP_011541149.1:p.Met187Thr
NM_001351834.1:c.5489T>C	NP_001338763.1:p.Met1830Thr
XM_005271562.5:c.5489T>C	XP_005271619.2:p.Met1830Thr
XM_006718843.4:c.5489T>C	XP_006718906.1:p.Met1830Thr
XM_006718845.2:c.1445T>C	XP_006718908.1:p.Met482Thr
XM_011542840.3:c.5489T>C	XP_011541142.1:p.Met1830Thr
XM_011542842.3:c.5324T>C	XP_011541144.1:p.Met1775Thr
XM_011542843.2:c.5489T>C	XP_011541145.1:p.Met1830Thr
XM_011542844.3:c.4445T>C	XP_011541146.1:p.Met1482Thr
XM_011542845.2:c.4181T>C	XP_011541147.1:p.Met1394Thr
XM_017017789.2:c.5489T>C	XP_016873278.1:p.Met1830Thr
XM_017017790.2:c.5489T>C	XP_016873279.1:p.Met1830Thr
XM_017017791.1:c.5489T>C	XP_016873280.1:p.Met1830Thr
XR_002957150.1:n.6089T>C
NM_001351834.2:c.5489T>C	NP_001338763.1:p.Met1830Thr
NM_000051.4:c.5489T>C MANE Select	NP_000042.3:p.Met1830Thr