Canonical Allele Identifier: CA382554050

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 489574
• ClinVar RCV Id: RCV001290628 ; RCV003392421 ; RCV003409852 ; RCV003465289
• dbSNP Id: rs1232551114
• gnomAD v2: 11-108192072-T-C
• gnomAD v3: 11-108321345-T-C
• gnomAD v4: 11-108321345-T-C
• MyVariant Identifiers: chr11:g.108192072T>C (hg19) ; chr11:g.108321345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321345T>C , CM000673.2:g.108321345T>C	GRCh38
NC_000011.9:g.108192072T>C , CM000673.1:g.108192072T>C	GRCh37
NC_000011.8:g.107697282T>C	NCBI36
NG_009830.1:g.103514T>C , LRG_135:g.103514T>C
NG_054724.1:g.153488A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6497T>C (ATM)	ENSP00000388058.2:p.Val2166Ala
ENST00000713593.1:c.*5968T>C (ATM)	ENSP00000518889.1:n.*5968T>C
ENST00000278616.9:c.6497T>C (ATM)	ENSP00000278616.4:p.Val2166Ala
ENST00000525056.2:n.916T>C (ATM)
ENST00000682286.1:n.1254T>C (ATM)
ENST00000682302.1:n.915T>C (ATM)
ENST00000683174.1:n.7981T>C (ATM)
ENST00000683524.1:n.1721T>C (ATM)
ENST00000684152.1:n.2211T>C (ATM)
ENST00000527805.6:c.*1561T>C (ATM)	ENSP00000435747.2:n.*1561T>C
ENST00000675595.1:c.*1632T>C (ATM)	ENSP00000502563.1:n.*1632T>C
ENST00000675843.1:c.6497T>C (ATM) MANE Select	ENSP00000501606.1:p.Val2166Ala
ENST00000278616.8:c.6497T>C (ATM)	ENSP00000278616.4:p.Val2166Ala
ENST00000452508.6:c.6497T>C (ATM)	ENSP00000388058.2:p.Val2166Ala
ENST00000524792.5:n.2712T>C (ATM)
ENST00000525729.5:c.641-12274A>G (C11orf65)	ENSP00000433395.1:n.641-12274A>G
ENST00000533690.5:n.1901T>C (ATM)
NM_000051.3:c.6497T>C , LRG_135t1:c.6497T>C (ATM)	NP_000042.3:p.Val2166Ala
XM_005271561.3:c.6497T>C (ATM)	XP_005271618.2:p.Val2166Ala
XM_005271562.3:c.6497T>C (ATM)	XP_005271619.2:p.Val2166Ala
XM_006718843.2:c.6497T>C (ATM)	XP_006718906.1:p.Val2166Ala
XM_006718845.1:c.2453T>C (ATM)	XP_006718908.1:p.Val818Ala
XM_011542840.1:c.6497T>C (ATM)	XP_011541142.1:p.Val2166Ala
XM_011542841.1:c.6497T>C (ATM)	XP_011541143.1:p.Val2166Ala
XM_011542842.1:c.6332T>C (ATM)	XP_011541144.1:p.Val2111Ala
XM_011542843.1:c.6497T>C (ATM)	XP_011541145.1:p.Val2166Ala
XM_011542844.1:c.5453T>C (ATM)	XP_011541146.1:p.Val1818Ala
XM_011542845.1:c.5189T>C (ATM)	XP_011541147.1:p.Val1730Ala
XM_011542847.1:c.1568T>C (ATM)	XP_011541149.1:p.Val523Ala
NM_001330368.1:c.641-12274A>G (C11orf65)	NP_001317297.1:n.641-12274A>G
NM_001351110.1:c.*39-12274A>G (C11orf65)	NP_001338039.1:n.*39-12274A>G
NM_001351834.1:c.6497T>C (ATM)	NP_001338763.1:p.Val2166Ala
XM_005271562.5:c.6497T>C (ATM)	XP_005271619.2:p.Val2166Ala
XM_006718843.4:c.6497T>C (ATM)	XP_006718906.1:p.Val2166Ala
XM_006718845.2:c.2453T>C (ATM)	XP_006718908.1:p.Val818Ala
XM_011542840.3:c.6497T>C (ATM)	XP_011541142.1:p.Val2166Ala
XM_011542842.3:c.6332T>C (ATM)	XP_011541144.1:p.Val2111Ala
XM_011542843.2:c.6497T>C (ATM)	XP_011541145.1:p.Val2166Ala
XM_011542844.3:c.5453T>C (ATM)	XP_011541146.1:p.Val1818Ala
XM_011542845.2:c.5189T>C (ATM)	XP_011541147.1:p.Val1730Ala
XM_017017789.2:c.6497T>C (ATM)	XP_016873278.1:p.Val2166Ala
XM_017017790.2:c.6497T>C (ATM)	XP_016873279.1:p.Val2166Ala
NM_001330368.2:c.641-12274A>G (C11orf65)	NP_001317297.1:n.641-12274A>G
NM_001351110.2:c.*39-12274A>G (C11orf65)	NP_001338039.1:n.*39-12274A>G
NM_001351834.2:c.6497T>C (ATM)	NP_001338763.1:p.Val2166Ala
NM_000051.4:c.6497T>C (ATM) MANE Select	NP_000042.3:p.Val2166Ala