Canonical Allele Identifier: CA382553320

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1016092
• ClinVar RCV Id: RCV001315043
• dbSNP Id: rs2085081321
• MyVariant Identifiers: chr11:g.108190721A>C (hg19) ; chr11:g.108319994A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108319994A>C , CM000673.2:g.108319994A>C	GRCh38
NC_000011.9:g.108190721A>C , CM000673.1:g.108190721A>C	GRCh37
NC_000011.8:g.107695931A>C	NCBI36
NG_009830.1:g.102163A>C , LRG_135:g.102163A>C
NG_054724.1:g.154839T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6388A>C (ATM)	ENSP00000388058.2:p.Asn2130His
ENST00000713593.1:c.*5859A>C (ATM)	ENSP00000518889.1:n.*5859A>C
ENST00000278616.9:c.6388A>C (ATM)	ENSP00000278616.4:p.Asn2130His
ENST00000525056.2:n.807A>C (ATM)
ENST00000682286.1:n.1145A>C (ATM)
ENST00000682302.1:n.806A>C (ATM)
ENST00000683174.1:n.7872A>C (ATM)
ENST00000683524.1:n.1612A>C (ATM)
ENST00000684152.1:n.2102A>C (ATM)
ENST00000527805.6:c.*1452A>C (ATM)	ENSP00000435747.2:n.*1452A>C
ENST00000675595.1:c.*1452A>C (ATM)	ENSP00000502563.1:n.*1452A>C
ENST00000675843.1:c.6388A>C (ATM) MANE Select	ENSP00000501606.1:p.Asn2130His
ENST00000278616.8:c.6388A>C (ATM)	ENSP00000278616.4:p.Asn2130His
ENST00000452508.6:c.6388A>C (ATM)	ENSP00000388058.2:p.Asn2130His
ENST00000524792.5:n.2603A>C (ATM)
ENST00000525729.5:c.641-10923T>G (C11orf65)	ENSP00000433395.1:n.641-10923T>G
ENST00000533690.5:n.1792A>C (ATM)
NM_000051.3:c.6388A>C , LRG_135t1:c.6388A>C (ATM)	NP_000042.3:p.Asn2130His
XM_005271561.3:c.6388A>C (ATM)	XP_005271618.2:p.Asn2130His
XM_005271562.3:c.6388A>C (ATM)	XP_005271619.2:p.Asn2130His
XM_006718843.2:c.6388A>C (ATM)	XP_006718906.1:p.Asn2130His
XM_006718845.1:c.2344A>C (ATM)	XP_006718908.1:p.Asn782His
XM_011542840.1:c.6388A>C (ATM)	XP_011541142.1:p.Asn2130His
XM_011542841.1:c.6388A>C (ATM)	XP_011541143.1:p.Asn2130His
XM_011542842.1:c.6223A>C (ATM)	XP_011541144.1:p.Asn2075His
XM_011542843.1:c.6388A>C (ATM)	XP_011541145.1:p.Asn2130His
XM_011542844.1:c.5344A>C (ATM)	XP_011541146.1:p.Asn1782His
XM_011542845.1:c.5080A>C (ATM)	XP_011541147.1:p.Asn1694His
XM_011542847.1:c.1459A>C (ATM)	XP_011541149.1:p.Asn487His
NM_001330368.1:c.641-10923T>G (C11orf65)	NP_001317297.1:n.641-10923T>G
NM_001351110.1:c.*39-10923T>G (C11orf65)	NP_001338039.1:n.*39-10923T>G
NM_001351834.1:c.6388A>C (ATM)	NP_001338763.1:p.Asn2130His
XM_005271562.5:c.6388A>C (ATM)	XP_005271619.2:p.Asn2130His
XM_006718843.4:c.6388A>C (ATM)	XP_006718906.1:p.Asn2130His
XM_006718845.2:c.2344A>C (ATM)	XP_006718908.1:p.Asn782His
XM_011542840.3:c.6388A>C (ATM)	XP_011541142.1:p.Asn2130His
XM_011542842.3:c.6223A>C (ATM)	XP_011541144.1:p.Asn2075His
XM_011542843.2:c.6388A>C (ATM)	XP_011541145.1:p.Asn2130His
XM_011542844.3:c.5344A>C (ATM)	XP_011541146.1:p.Asn1782His
XM_011542845.2:c.5080A>C (ATM)	XP_011541147.1:p.Asn1694His
XM_017017789.2:c.6388A>C (ATM)	XP_016873278.1:p.Asn2130His
XM_017017790.2:c.6388A>C (ATM)	XP_016873279.1:p.Asn2130His
XM_017017791.1:c.6388A>C (ATM)	XP_016873280.1:p.Asn2130His
NM_001330368.2:c.641-10923T>G (C11orf65)	NP_001317297.1:n.641-10923T>G
NM_001351110.2:c.*39-10923T>G (C11orf65)	NP_001338039.1:n.*39-10923T>G
NM_001351834.2:c.6388A>C (ATM)	NP_001338763.1:p.Asn2130His
NM_000051.4:c.6388A>C (ATM) MANE Select	NP_000042.3:p.Asn2130His