Canonical Allele Identifier: CA194915

Gene: ATM

Linked Data

• ClinVar Variation Id: 186470
• ClinVar RCV Id: RCV000166070 ; RCV000411731 ; RCV000436210 ; RCV001420920 ; RCV003468770
• dbSNP Id: rs201089102
• MyVariant Identifiers: chr11:g.108117855G>T (hg19) ; chr11:g.108247128G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247128G>T , CM000673.2:g.108247128G>T	GRCh38
NC_000011.9:g.108117855G>T , CM000673.1:g.108117855G>T	GRCh37
NC_000011.8:g.107623065G>T	NCBI36
NG_009830.1:g.29297G>T , LRG_135:g.29297G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1065+1G>T	ENSP00000388058.2:n.1065+1G>T
ENST00000713593.1:c.*536+1G>T	ENSP00000518889.1:n.*536+1G>T
ENST00000278616.9:c.1065+1G>T	ENSP00000278616.4:n.1065+1G>T
ENST00000682516.1:n.1199+1G>T
ENST00000682956.1:n.1199+1G>T
ENST00000683100.1:n.3413G>T
ENST00000683174.1:n.1215+1G>T
ENST00000683605.1:n.560+1G>T
ENST00000684037.1:c.1066G>T	ENSP00000508245.1:p.Val356Leu
ENST00000684061.1:n.1199+1G>T
ENST00000684179.1:n.1034+1G>T
ENST00000527805.6:c.1065+1G>T	ENSP00000435747.2:n.1065+1G>T
ENST00000675595.1:c.900+1G>T	ENSP00000502563.1:n.900+1G>T
ENST00000675843.1:c.1065+1G>T MANE Select	ENSP00000501606.1:n.1065+1G>T
ENST00000278616.8:c.1065+1G>T	ENSP00000278616.4:n.1065+1G>T
ENST00000452508.6:c.1065+1G>T	ENSP00000388058.2:n.1065+1G>T
ENST00000527805.5:c.1065+1G>T	ENSP00000435747.1:n.1065+1G>T
NM_000051.3:c.1065+1G>T , LRG_135t1:c.1065+1G>T	NP_000042.3:n.1065+1G>T
XM_005271561.3:c.1065+1G>T	XP_005271618.2:n.1065+1G>T
XM_005271562.3:c.1065+1G>T	XP_005271619.2:n.1065+1G>T
XM_006718843.2:c.1065+1G>T	XP_006718906.1:n.1065+1G>T
XM_011542840.1:c.1065+1G>T	XP_011541142.1:n.1065+1G>T
XM_011542841.1:c.1065+1G>T	XP_011541143.1:n.1065+1G>T
XM_011542842.1:c.900+1G>T	XP_011541144.1:n.900+1G>T
XM_011542843.1:c.1065+1G>T	XP_011541145.1:n.1065+1G>T
XM_011542844.1:c.21+1G>T	XP_011541146.1:n.21+1G>T
XM_011542845.1:c.-74+1G>T	XP_011541147.1:n.-74+1G>T
XM_011542846.1:c.1065+1G>T	XP_011541148.1:n.1065+1G>T
NM_001351834.1:c.1065+1G>T	NP_001338763.1:n.1065+1G>T
XM_005271562.5:c.1065+1G>T	XP_005271619.2:n.1065+1G>T
XM_006718843.4:c.1065+1G>T	XP_006718906.1:n.1065+1G>T
XM_011542840.3:c.1065+1G>T	XP_011541142.1:n.1065+1G>T
XM_011542842.3:c.900+1G>T	XP_011541144.1:n.900+1G>T
XM_011542843.2:c.1065+1G>T	XP_011541145.1:n.1065+1G>T
XM_011542844.3:c.21+1G>T	XP_011541146.1:n.21+1G>T
XM_011542845.2:c.-74+1G>T	XP_011541147.1:n.-74+1G>T
XM_017017789.2:c.1065+1G>T	XP_016873278.1:n.1065+1G>T
XM_017017790.2:c.1065+1G>T	XP_016873279.1:n.1065+1G>T
XM_017017791.1:c.1065+1G>T	XP_016873280.1:n.1065+1G>T
XM_017017792.2:c.1065+1G>T	XP_016873281.1:n.1065+1G>T
XR_002957150.1:n.1798+1G>T
NM_001351834.2:c.1065+1G>T	NP_001338763.1:n.1065+1G>T
NM_000051.4:c.1065+1G>T MANE Select	NP_000042.3:n.1065+1G>T