Canonical Allele Identifier: CA192390

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 185600
• ClinVar RCV Id: RCV000165048 ; RCV000439099 ; RCV000988722
• dbSNP Id: rs750513866
• ExAC: 11:108199906 C / T
• gnomAD v2: 11-108199906-C-T
• gnomAD v4: 11-108329179-C-T
• MyVariant Identifiers: chr11:g.108199906C>T (hg19) ; chr11:g.108329179C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329179C>T , CM000673.2:g.108329179C>T	GRCh38
NC_000011.9:g.108199906C>T , CM000673.1:g.108199906C>T	GRCh37
NC_000011.8:g.107705116C>T	NCBI36
NG_009830.1:g.111348C>T , LRG_135:g.111348C>T
NG_054724.1:g.145654G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7248C>T (ATM)	ENSP00000388058.2:p.Leu2416=
ENST00000713593.1:c.*6719C>T (ATM)	ENSP00000518889.1:n.*6719C>T
ENST00000278616.9:c.7248C>T (ATM)	ENSP00000278616.4:p.Leu2416=
ENST00000525056.2:n.1667C>T (ATM)
ENST00000525537.3:n.205C>T (ATM)
ENST00000638786.2:n.85C>T (ATM)
ENST00000682286.1:n.2005C>T (ATM)
ENST00000682302.1:n.1666C>T (ATM)
ENST00000683174.1:n.8732C>T (ATM)
ENST00000683524.1:n.2472C>T (ATM)
ENST00000684152.1:n.2962C>T (ATM)
ENST00000684447.1:n.1711C>T (ATM)
ENST00000527805.6:c.*2312C>T (ATM)	ENSP00000435747.2:n.*2312C>T
ENST00000675595.1:c.*2383C>T (ATM)	ENSP00000502563.1:n.*2383C>T
ENST00000675843.1:c.7248C>T (ATM) MANE Select	ENSP00000501606.1:p.Leu2416=
ENST00000278616.8:c.7248C>T (ATM)	ENSP00000278616.4:p.Leu2416=
ENST00000452508.6:c.7248C>T (ATM)	ENSP00000388058.2:p.Leu2416=
ENST00000524792.5:n.3463C>T (ATM)
ENST00000525537.2:n.524C>T (ATM)
ENST00000525729.5:c.641-20108G>A (C11orf65)	ENSP00000433395.1:n.641-20108G>A
ENST00000527389.2:n.273C>T (ATM)
ENST00000533690.5:n.2652C>T (ATM)
NM_000051.3:c.7248C>T , LRG_135t1:c.7248C>T (ATM)	NP_000042.3:p.Leu2416=
XM_005271561.3:c.7248C>T (ATM)	XP_005271618.2:p.Leu2416=
XM_005271562.3:c.7248C>T (ATM)	XP_005271619.2:p.Leu2416=
XM_006718843.2:c.7248C>T (ATM)	XP_006718906.1:p.Leu2416=
XM_006718845.1:c.3204C>T (ATM)	XP_006718908.1:p.Leu1068=
XM_011542840.1:c.7248C>T (ATM)	XP_011541142.1:p.Leu2416=
XM_011542841.1:c.7248C>T (ATM)	XP_011541143.1:p.Leu2416=
XM_011542842.1:c.7083C>T (ATM)	XP_011541144.1:p.Leu2361=
XM_011542843.1:c.7248C>T (ATM)	XP_011541145.1:p.Leu2416=
XM_011542844.1:c.6204C>T (ATM)	XP_011541146.1:p.Leu2068=
XM_011542845.1:c.5940C>T (ATM)	XP_011541147.1:p.Leu1980=
XM_011542847.1:c.2319C>T (ATM)	XP_011541149.1:p.Leu773=
NM_001330368.1:c.641-20108G>A (C11orf65)	NP_001317297.1:n.641-20108G>A
NM_001351110.1:c.*38+6041G>A (C11orf65)	NP_001338039.1:n.*38+6041G>A
NM_001351834.1:c.7248C>T (ATM)	NP_001338763.1:p.Leu2416=
XM_005271562.5:c.7248C>T (ATM)	XP_005271619.2:p.Leu2416=
XM_006718843.4:c.7248C>T (ATM)	XP_006718906.1:p.Leu2416=
XM_006718845.2:c.3204C>T (ATM)	XP_006718908.1:p.Leu1068=
XM_011542840.3:c.7248C>T (ATM)	XP_011541142.1:p.Leu2416=
XM_011542842.3:c.7083C>T (ATM)	XP_011541144.1:p.Leu2361=
XM_011542843.2:c.7248C>T (ATM)	XP_011541145.1:p.Leu2416=
XM_011542844.3:c.6204C>T (ATM)	XP_011541146.1:p.Leu2068=
XM_011542845.2:c.5940C>T (ATM)	XP_011541147.1:p.Leu1980=
XM_017017789.2:c.7248C>T (ATM)	XP_016873278.1:p.Leu2416=
XM_017017790.2:c.7248C>T (ATM)	XP_016873279.1:p.Leu2416=
NM_001330368.2:c.641-20108G>A (C11orf65)	NP_001317297.1:n.641-20108G>A
NM_001351110.2:c.*38+6041G>A (C11orf65)	NP_001338039.1:n.*38+6041G>A
NM_001351834.2:c.7248C>T (ATM)	NP_001338763.1:p.Leu2416=
NM_000051.4:c.7248C>T (ATM) MANE Select	NP_000042.3:p.Leu2416=