Canonical Allele Identifier: CA382547883

Gene: ATM

Linked Data

• ClinVar Variation Id: 2003302
• ClinVar RCV Id: RCV002833200
• MyVariant Identifiers: chr11:g.108178659A>T (hg19) ; chr11:g.108307932A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307932A>T , CM000673.2:g.108307932A>T	GRCh38
NC_000011.9:g.108178659A>T , CM000673.1:g.108178659A>T	GRCh37
NC_000011.8:g.107683869A>T	NCBI36
NG_009830.1:g.90101A>T , LRG_135:g.90101A>T
NG_054724.1:g.166901T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5710A>T	ENSP00000388058.2:p.Lys1904Ter
ENST00000713593.1:c.*5181A>T	ENSP00000518889.1:n.*5181A>T
ENST00000278616.9:c.5710A>T	ENSP00000278616.4:p.Lys1904Ter
ENST00000525056.2:n.129A>T
ENST00000682286.1:n.467A>T
ENST00000682302.1:n.128A>T
ENST00000683174.1:n.7194A>T
ENST00000683524.1:n.934A>T
ENST00000684152.1:n.1424A>T
ENST00000527805.6:c.*774A>T	ENSP00000435747.2:n.*774A>T
ENST00000675595.1:c.*774A>T	ENSP00000502563.1:n.*774A>T
ENST00000675843.1:c.5710A>T MANE Select	ENSP00000501606.1:p.Lys1904Ter
ENST00000278616.8:c.5710A>T	ENSP00000278616.4:p.Lys1904Ter
ENST00000452508.6:c.5710A>T	ENSP00000388058.2:p.Lys1904Ter
ENST00000524792.5:n.1925A>T
ENST00000529588.5:c.187-2228A>T
ENST00000533690.5:n.1114A>T
NM_000051.3:c.5710A>T , LRG_135t1:c.5710A>T	NP_000042.3:p.Lys1904Ter
XM_005271561.3:c.5710A>T	XP_005271618.2:p.Lys1904Ter
XM_005271562.3:c.5710A>T	XP_005271619.2:p.Lys1904Ter
XM_006718843.2:c.5710A>T	XP_006718906.1:p.Lys1904Ter
XM_006718845.1:c.1666A>T	XP_006718908.1:p.Lys556Ter
XM_011542840.1:c.5710A>T	XP_011541142.1:p.Lys1904Ter
XM_011542841.1:c.5710A>T	XP_011541143.1:p.Lys1904Ter
XM_011542842.1:c.5545A>T	XP_011541144.1:p.Lys1849Ter
XM_011542843.1:c.5710A>T	XP_011541145.1:p.Lys1904Ter
XM_011542844.1:c.4666A>T	XP_011541146.1:p.Lys1556Ter
XM_011542845.1:c.4402A>T	XP_011541147.1:p.Lys1468Ter
XM_011542847.1:c.781A>T	XP_011541149.1:p.Lys261Ter
NM_001351834.1:c.5710A>T	NP_001338763.1:p.Lys1904Ter
XM_005271562.5:c.5710A>T	XP_005271619.2:p.Lys1904Ter
XM_006718843.4:c.5710A>T	XP_006718906.1:p.Lys1904Ter
XM_006718845.2:c.1666A>T	XP_006718908.1:p.Lys556Ter
XM_011542840.3:c.5710A>T	XP_011541142.1:p.Lys1904Ter
XM_011542842.3:c.5545A>T	XP_011541144.1:p.Lys1849Ter
XM_011542843.2:c.5710A>T	XP_011541145.1:p.Lys1904Ter
XM_011542844.3:c.4666A>T	XP_011541146.1:p.Lys1556Ter
XM_011542845.2:c.4402A>T	XP_011541147.1:p.Lys1468Ter
XM_017017789.2:c.5710A>T	XP_016873278.1:p.Lys1904Ter
XM_017017790.2:c.5710A>T	XP_016873279.1:p.Lys1904Ter
XM_017017791.1:c.5710A>T	XP_016873280.1:p.Lys1904Ter
XR_002957150.1:n.6310A>T
NM_001351834.2:c.5710A>T	NP_001338763.1:p.Lys1904Ter
NM_000051.4:c.5710A>T MANE Select	NP_000042.3:p.Lys1904Ter