Canonical Allele Identifier: CA476676455

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 925976
• ClinVar RCV Id: RCV001188252
• dbSNP Id: rs2085817001
• MyVariant Identifiers: chr11:g.108198422C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327695C>G , CM000673.2:g.108327695C>G	GRCh38
NC_000011.9:g.108198422C>G , CM000673.1:g.108198422C>G	GRCh37
NC_000011.8:g.107703632C>G	NCBI36
NG_009830.1:g.109864C>G , LRG_135:g.109864C>G
NG_054724.1:g.147138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7026C>G (ATM)	ENSP00000388058.2:p.Gly2342=
ENST00000713593.1:c.*6497C>G (ATM)	ENSP00000518889.1:n.*6497C>G
ENST00000278616.9:c.7026C>G (ATM)	ENSP00000278616.4:p.Gly2342=
ENST00000525056.2:n.1445C>G (ATM)
ENST00000682286.1:n.1783C>G (ATM)
ENST00000682302.1:n.1444C>G (ATM)
ENST00000683174.1:n.8510C>G (ATM)
ENST00000683524.1:n.2250C>G (ATM)
ENST00000684152.1:n.2740C>G (ATM)
ENST00000684447.1:n.1489C>G (ATM)
ENST00000527805.6:c.*2090C>G (ATM)	ENSP00000435747.2:n.*2090C>G
ENST00000675595.1:c.*2161C>G (ATM)	ENSP00000502563.1:n.*2161C>G
ENST00000675843.1:c.7026C>G (ATM) MANE Select	ENSP00000501606.1:p.Gly2342=
ENST00000278616.8:c.7026C>G (ATM)	ENSP00000278616.4:p.Gly2342=
ENST00000452508.6:c.7026C>G (ATM)	ENSP00000388058.2:p.Gly2342=
ENST00000524792.5:n.3241C>G (ATM)
ENST00000525537.2:n.302C>G (ATM)
ENST00000525729.5:c.641-18624G>C (C11orf65)	ENSP00000433395.1:n.641-18624G>C
ENST00000527389.2:n.51C>G (ATM)
ENST00000533690.5:n.2430C>G (ATM)
NM_000051.3:c.7026C>G , LRG_135t1:c.7026C>G (ATM)	NP_000042.3:p.Gly2342=
XM_005271561.3:c.7026C>G (ATM)	XP_005271618.2:p.Gly2342=
XM_005271562.3:c.7026C>G (ATM)	XP_005271619.2:p.Gly2342=
XM_006718843.2:c.7026C>G (ATM)	XP_006718906.1:p.Gly2342=
XM_006718845.1:c.2982C>G (ATM)	XP_006718908.1:p.Gly994=
XM_011542840.1:c.7026C>G (ATM)	XP_011541142.1:p.Gly2342=
XM_011542841.1:c.7026C>G (ATM)	XP_011541143.1:p.Gly2342=
XM_011542842.1:c.6861C>G (ATM)	XP_011541144.1:p.Gly2287=
XM_011542843.1:c.7026C>G (ATM)	XP_011541145.1:p.Gly2342=
XM_011542844.1:c.5982C>G (ATM)	XP_011541146.1:p.Gly1994=
XM_011542845.1:c.5718C>G (ATM)	XP_011541147.1:p.Gly1906=
XM_011542847.1:c.2097C>G (ATM)	XP_011541149.1:p.Gly699=
NM_001330368.1:c.641-18624G>C (C11orf65)	NP_001317297.1:n.641-18624G>C
NM_001351110.1:c.*38+7525G>C (C11orf65)	NP_001338039.1:n.*38+7525G>C
NM_001351834.1:c.7026C>G (ATM)	NP_001338763.1:p.Gly2342=
XM_005271562.5:c.7026C>G (ATM)	XP_005271619.2:p.Gly2342=
XM_006718843.4:c.7026C>G (ATM)	XP_006718906.1:p.Gly2342=
XM_006718845.2:c.2982C>G (ATM)	XP_006718908.1:p.Gly994=
XM_011542840.3:c.7026C>G (ATM)	XP_011541142.1:p.Gly2342=
XM_011542842.3:c.6861C>G (ATM)	XP_011541144.1:p.Gly2287=
XM_011542843.2:c.7026C>G (ATM)	XP_011541145.1:p.Gly2342=
XM_011542844.3:c.5982C>G (ATM)	XP_011541146.1:p.Gly1994=
XM_011542845.2:c.5718C>G (ATM)	XP_011541147.1:p.Gly1906=
XM_017017789.2:c.7026C>G (ATM)	XP_016873278.1:p.Gly2342=
XM_017017790.2:c.7026C>G (ATM)	XP_016873279.1:p.Gly2342=
NM_001330368.2:c.641-18624G>C (C11orf65)	NP_001317297.1:n.641-18624G>C
NM_001351110.2:c.*38+7525G>C (C11orf65)	NP_001338039.1:n.*38+7525G>C
NM_001351834.2:c.7026C>G (ATM)	NP_001338763.1:p.Gly2342=
NM_000051.4:c.7026C>G (ATM) MANE Select	NP_000042.3:p.Gly2342=