Canonical Allele Identifier: CA196086

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 186867
• ClinVar RCV Id: RCV000166521 ; RCV000168468 ; RCV000586878 ; RCV000855628
• dbSNP Id: rs3092831
• ExAC: 11:108198400 C / T
• gnomAD v2: 11-108198400-C-T
• gnomAD v3: 11-108327673-C-T
• gnomAD v4: 11-108327673-C-T
• MyVariant Identifiers: chr11:g.108198400C>T (hg19) ; chr11:g.108327673C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327673C>T , CM000673.2:g.108327673C>T	GRCh38
NC_000011.9:g.108198400C>T , CM000673.1:g.108198400C>T	GRCh37
NC_000011.8:g.107703610C>T	NCBI36
NG_009830.1:g.109842C>T , LRG_135:g.109842C>T
NG_054724.1:g.147160G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7004C>T (ATM)	ENSP00000388058.2:p.Thr2335Ile
ENST00000713593.1:c.*6475C>T (ATM)	ENSP00000518889.1:n.*6475C>T
ENST00000278616.9:c.7004C>T (ATM)	ENSP00000278616.4:p.Thr2335Ile
ENST00000525056.2:n.1423C>T (ATM)
ENST00000682286.1:n.1761C>T (ATM)
ENST00000682302.1:n.1422C>T (ATM)
ENST00000683174.1:n.8488C>T (ATM)
ENST00000683524.1:n.2228C>T (ATM)
ENST00000684152.1:n.2718C>T (ATM)
ENST00000684447.1:n.1467C>T (ATM)
ENST00000527805.6:c.*2068C>T (ATM)	ENSP00000435747.2:n.*2068C>T
ENST00000675595.1:c.*2139C>T (ATM)	ENSP00000502563.1:n.*2139C>T
ENST00000675843.1:c.7004C>T (ATM) MANE Select	ENSP00000501606.1:p.Thr2335Ile
ENST00000278616.8:c.7004C>T (ATM)	ENSP00000278616.4:p.Thr2335Ile
ENST00000452508.6:c.7004C>T (ATM)	ENSP00000388058.2:p.Thr2335Ile
ENST00000524792.5:n.3219C>T (ATM)
ENST00000525537.2:n.280C>T (ATM)
ENST00000525729.5:c.641-18602G>A (C11orf65)	ENSP00000433395.1:n.641-18602G>A
ENST00000527389.2:n.29C>T (ATM)
ENST00000533690.5:n.2408C>T (ATM)
NM_000051.3:c.7004C>T , LRG_135t1:c.7004C>T (ATM)	NP_000042.3:p.Thr2335Ile
XM_005271561.3:c.7004C>T (ATM)	XP_005271618.2:p.Thr2335Ile
XM_005271562.3:c.7004C>T (ATM)	XP_005271619.2:p.Thr2335Ile
XM_006718843.2:c.7004C>T (ATM)	XP_006718906.1:p.Thr2335Ile
XM_006718845.1:c.2960C>T (ATM)	XP_006718908.1:p.Thr987Ile
XM_011542840.1:c.7004C>T (ATM)	XP_011541142.1:p.Thr2335Ile
XM_011542841.1:c.7004C>T (ATM)	XP_011541143.1:p.Thr2335Ile
XM_011542842.1:c.6839C>T (ATM)	XP_011541144.1:p.Thr2280Ile
XM_011542843.1:c.7004C>T (ATM)	XP_011541145.1:p.Thr2335Ile
XM_011542844.1:c.5960C>T (ATM)	XP_011541146.1:p.Thr1987Ile
XM_011542845.1:c.5696C>T (ATM)	XP_011541147.1:p.Thr1899Ile
XM_011542847.1:c.2075C>T (ATM)	XP_011541149.1:p.Thr692Ile
NM_001330368.1:c.641-18602G>A (C11orf65)	NP_001317297.1:n.641-18602G>A
NM_001351110.1:c.*38+7547G>A (C11orf65)	NP_001338039.1:n.*38+7547G>A
NM_001351834.1:c.7004C>T (ATM)	NP_001338763.1:p.Thr2335Ile
XM_005271562.5:c.7004C>T (ATM)	XP_005271619.2:p.Thr2335Ile
XM_006718843.4:c.7004C>T (ATM)	XP_006718906.1:p.Thr2335Ile
XM_006718845.2:c.2960C>T (ATM)	XP_006718908.1:p.Thr987Ile
XM_011542840.3:c.7004C>T (ATM)	XP_011541142.1:p.Thr2335Ile
XM_011542842.3:c.6839C>T (ATM)	XP_011541144.1:p.Thr2280Ile
XM_011542843.2:c.7004C>T (ATM)	XP_011541145.1:p.Thr2335Ile
XM_011542844.3:c.5960C>T (ATM)	XP_011541146.1:p.Thr1987Ile
XM_011542845.2:c.5696C>T (ATM)	XP_011541147.1:p.Thr1899Ile
XM_017017789.2:c.7004C>T (ATM)	XP_016873278.1:p.Thr2335Ile
XM_017017790.2:c.7004C>T (ATM)	XP_016873279.1:p.Thr2335Ile
NM_001330368.2:c.641-18602G>A (C11orf65)	NP_001317297.1:n.641-18602G>A
NM_001351110.2:c.*38+7547G>A (C11orf65)	NP_001338039.1:n.*38+7547G>A
NM_001351834.2:c.7004C>T (ATM)	NP_001338763.1:p.Thr2335Ile
NM_000051.4:c.7004C>T (ATM) MANE Select	NP_000042.3:p.Thr2335Ile