Canonical Allele Identifier: CA16606118

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 378953
• ClinVar RCV Id: RCV001503951
• dbSNP Id: rs1057520430
• MyVariant Identifiers: chr11:g.108199837T>C (hg19) ; chr11:g.108329110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329110T>C , CM000673.2:g.108329110T>C	GRCh38
NC_000011.9:g.108199837T>C , CM000673.1:g.108199837T>C	GRCh37
NC_000011.8:g.107705047T>C	NCBI36
NG_009830.1:g.111279T>C , LRG_135:g.111279T>C
NG_054724.1:g.145723A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7179T>C (ATM)	ENSP00000388058.2:p.Phe2393=
ENST00000713593.1:c.*6650T>C (ATM)	ENSP00000518889.1:n.*6650T>C
ENST00000278616.9:c.7179T>C (ATM)	ENSP00000278616.4:p.Phe2393=
ENST00000525056.2:n.1598T>C (ATM)
ENST00000525537.3:n.136T>C (ATM)
ENST00000638786.2:n.16T>C (ATM)
ENST00000682286.1:n.1936T>C (ATM)
ENST00000682302.1:n.1597T>C (ATM)
ENST00000683174.1:n.8663T>C (ATM)
ENST00000683524.1:n.2403T>C (ATM)
ENST00000684152.1:n.2893T>C (ATM)
ENST00000684447.1:n.1642T>C (ATM)
ENST00000527805.6:c.*2243T>C (ATM)	ENSP00000435747.2:n.*2243T>C
ENST00000675595.1:c.*2314T>C (ATM)	ENSP00000502563.1:n.*2314T>C
ENST00000675843.1:c.7179T>C (ATM) MANE Select	ENSP00000501606.1:p.Phe2393=
ENST00000278616.8:c.7179T>C (ATM)	ENSP00000278616.4:p.Phe2393=
ENST00000452508.6:c.7179T>C (ATM)	ENSP00000388058.2:p.Phe2393=
ENST00000524792.5:n.3394T>C (ATM)
ENST00000525537.2:n.455T>C (ATM)
ENST00000525729.5:c.641-20039A>G (C11orf65)	ENSP00000433395.1:n.641-20039A>G
ENST00000527389.2:n.204T>C (ATM)
ENST00000533690.5:n.2583T>C (ATM)
NM_000051.3:c.7179T>C , LRG_135t1:c.7179T>C (ATM)	NP_000042.3:p.Phe2393=
XM_005271561.3:c.7179T>C (ATM)	XP_005271618.2:p.Phe2393=
XM_005271562.3:c.7179T>C (ATM)	XP_005271619.2:p.Phe2393=
XM_006718843.2:c.7179T>C (ATM)	XP_006718906.1:p.Phe2393=
XM_006718845.1:c.3135T>C (ATM)	XP_006718908.1:p.Phe1045=
XM_011542840.1:c.7179T>C (ATM)	XP_011541142.1:p.Phe2393=
XM_011542841.1:c.7179T>C (ATM)	XP_011541143.1:p.Phe2393=
XM_011542842.1:c.7014T>C (ATM)	XP_011541144.1:p.Phe2338=
XM_011542843.1:c.7179T>C (ATM)	XP_011541145.1:p.Phe2393=
XM_011542844.1:c.6135T>C (ATM)	XP_011541146.1:p.Phe2045=
XM_011542845.1:c.5871T>C (ATM)	XP_011541147.1:p.Phe1957=
XM_011542847.1:c.2250T>C (ATM)	XP_011541149.1:p.Phe750=
NM_001330368.1:c.641-20039A>G (C11orf65)	NP_001317297.1:n.641-20039A>G
NM_001351110.1:c.*38+6110A>G (C11orf65)	NP_001338039.1:n.*38+6110A>G
NM_001351834.1:c.7179T>C (ATM)	NP_001338763.1:p.Phe2393=
XM_005271562.5:c.7179T>C (ATM)	XP_005271619.2:p.Phe2393=
XM_006718843.4:c.7179T>C (ATM)	XP_006718906.1:p.Phe2393=
XM_006718845.2:c.3135T>C (ATM)	XP_006718908.1:p.Phe1045=
XM_011542840.3:c.7179T>C (ATM)	XP_011541142.1:p.Phe2393=
XM_011542842.3:c.7014T>C (ATM)	XP_011541144.1:p.Phe2338=
XM_011542843.2:c.7179T>C (ATM)	XP_011541145.1:p.Phe2393=
XM_011542844.3:c.6135T>C (ATM)	XP_011541146.1:p.Phe2045=
XM_011542845.2:c.5871T>C (ATM)	XP_011541147.1:p.Phe1957=
XM_017017789.2:c.7179T>C (ATM)	XP_016873278.1:p.Phe2393=
XM_017017790.2:c.7179T>C (ATM)	XP_016873279.1:p.Phe2393=
NM_001330368.2:c.641-20039A>G (C11orf65)	NP_001317297.1:n.641-20039A>G
NM_001351110.2:c.*38+6110A>G (C11orf65)	NP_001338039.1:n.*38+6110A>G
NM_001351834.2:c.7179T>C (ATM)	NP_001338763.1:p.Phe2393=
NM_000051.4:c.7179T>C (ATM) MANE Select	NP_000042.3:p.Phe2393=