Canonical Allele Identifier: CA339537

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 216025
• ClinVar RCV Id: RCV000200768 ; RCV001176540 ; RCV003468895
• dbSNP Id: rs863224463
• gnomAD v4: 11-108333943-T-A
• MyVariant Identifiers: chr11:g.108204670T>A (hg19) ; chr11:g.108333943T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108333943T>A , CM000673.2:g.108333943T>A	GRCh38
NC_000011.9:g.108204670T>A , CM000673.1:g.108204670T>A	GRCh37
NC_000011.8:g.107709880T>A	NCBI36
NG_009830.1:g.116112T>A , LRG_135:g.116112T>A
NG_054724.1:g.140890A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7985T>A (ATM)	ENSP00000388058.2:p.Val2662Asp
ENST00000713593.1:c.*7456T>A (ATM)	ENSP00000518889.1:n.*7456T>A
ENST00000278616.9:c.7985T>A (ATM)	ENSP00000278616.4:p.Val2662Asp
ENST00000525056.2:n.2404T>A (ATM)
ENST00000638786.2:n.683T>A (ATM)
ENST00000682286.1:n.2742T>A (ATM)
ENST00000682302.1:n.2403T>A (ATM)
ENST00000683174.1:n.9469T>A (ATM)
ENST00000683524.1:n.3209T>A (ATM)
ENST00000684152.1:n.3401T>A (ATM)
ENST00000684180.1:n.459T>A (ATM)
ENST00000684447.1:n.4478T>A (ATM)
ENST00000527805.6:c.*3049T>A (ATM)	ENSP00000435747.2:n.*3049T>A
ENST00000675595.1:c.*3120T>A (ATM)	ENSP00000502563.1:n.*3120T>A
ENST00000675843.1:c.7985T>A (ATM) MANE Select	ENSP00000501606.1:p.Val2662Asp
ENST00000278616.8:c.7985T>A (ATM)	ENSP00000278616.4:p.Val2662Asp
ENST00000452508.6:c.7985T>A (ATM)	ENSP00000388058.2:p.Val2662Asp
ENST00000524755.5:c.299+1277A>T (C11orf65)
ENST00000524792.5:n.4200T>A (ATM)
ENST00000525056.1:n.182T>A (ATM)
ENST00000525729.5:c.641-24872A>T (C11orf65)	ENSP00000433395.1:n.641-24872A>T
ENST00000527531.5:c.*1269+1277A>T (C11orf65)	ENSP00000431706.1:n.*1269+1277A>T
ENST00000533979.5:n.197T>A (ATM)
ENST00000615746.4:c.*1269+1277A>T (C11orf65)	ENSP00000483537.1:n.*1269+1277A>T
NM_000051.3:c.7985T>A , LRG_135t1:c.7985T>A (ATM)	NP_000042.3:p.Val2662Asp
XM_005271414.3:c.*38+1277A>T (C11orf65)	XP_005271471.1:n.*38+1277A>T
XM_005271415.3:c.804+1277A>T (C11orf65)	XP_005271472.1:n.804+1277A>T
XM_005271561.3:c.7985T>A (ATM)	XP_005271618.2:p.Val2662Asp
XM_005271562.3:c.7985T>A (ATM)	XP_005271619.2:p.Val2662Asp
XM_006718843.2:c.7985T>A (ATM)	XP_006718906.1:p.Val2662Asp
XM_006718845.1:c.3941T>A (ATM)	XP_006718908.1:p.Val1314Asp
XM_011542840.1:c.7985T>A (ATM)	XP_011541142.1:p.Val2662Asp
XM_011542841.1:c.7985T>A (ATM)	XP_011541143.1:p.Val2662Asp
XM_011542842.1:c.7820T>A (ATM)	XP_011541144.1:p.Val2607Asp
XM_011542843.1:c.7985T>A (ATM)	XP_011541145.1:p.Val2662Asp
XM_011542844.1:c.6941T>A (ATM)	XP_011541146.1:p.Val2314Asp
XM_011542845.1:c.6677T>A (ATM)	XP_011541147.1:p.Val2226Asp
XM_011542847.1:c.3056T>A (ATM)	XP_011541149.1:p.Val1019Asp
NM_001330368.1:c.641-24872A>T (C11orf65)	NP_001317297.1:n.641-24872A>T
NM_001351110.1:c.*38+1277A>T (C11orf65)	NP_001338039.1:n.*38+1277A>T
NM_001351834.1:c.7985T>A (ATM)	NP_001338763.1:p.Val2662Asp
NR_147053.2:n.2374+1277A>T (C11orf65)
XM_005271414.4:c.*38+1277A>T (C11orf65)	XP_005271471.1:n.*38+1277A>T
XM_005271415.4:c.804+1277A>T (C11orf65)	XP_005271472.1:n.804+1277A>T
XM_005271562.5:c.7985T>A (ATM)	XP_005271619.2:p.Val2662Asp
XM_006718843.4:c.7985T>A (ATM)	XP_006718906.1:p.Val2662Asp
XM_006718845.2:c.3941T>A (ATM)	XP_006718908.1:p.Val1314Asp
XM_011542840.3:c.7985T>A (ATM)	XP_011541142.1:p.Val2662Asp
XM_011542842.3:c.7820T>A (ATM)	XP_011541144.1:p.Val2607Asp
XM_011542843.2:c.7985T>A (ATM)	XP_011541145.1:p.Val2662Asp
XM_011542844.3:c.6941T>A (ATM)	XP_011541146.1:p.Val2314Asp
XM_011542845.2:c.6677T>A (ATM)	XP_011541147.1:p.Val2226Asp
XM_017017789.2:c.7985T>A (ATM)	XP_016873278.1:p.Val2662Asp
XM_017017790.2:c.7985T>A (ATM)	XP_016873279.1:p.Val2662Asp
NM_001330368.2:c.641-24872A>T (C11orf65)	NP_001317297.1:n.641-24872A>T
NM_001351110.2:c.*38+1277A>T (C11orf65)	NP_001338039.1:n.*38+1277A>T
NM_001351834.2:c.7985T>A (ATM)	NP_001338763.1:p.Val2662Asp
NM_000051.4:c.7985T>A (ATM) MANE Select	NP_000042.3:p.Val2662Asp
NR_147053.3:n.2372+1277A>T (C11orf65)