Canonical Allele Identifier: CA382557041

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 482710
• ClinVar RCV Id: RCV000575199 ; RCV001208902 ; RCV001798899 ; RCV004024500
• dbSNP Id: rs1282099124
• gnomAD v4: 11-108326163-C-T
• MyVariant Identifiers: chr11:g.108196890C>T (hg19) ; chr11:g.108326163C>T (hg38)
• PubMed: PMID:12655570 ; PMID:17124347

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326163C>T , CM000673.2:g.108326163C>T	GRCh38
NC_000011.9:g.108196890C>T , CM000673.1:g.108196890C>T	GRCh37
NC_000011.8:g.107702100C>T	NCBI36
NG_009830.1:g.108332C>T , LRG_135:g.108332C>T
NG_054724.1:g.148670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6913C>T (ATM)	ENSP00000388058.2:p.Gln2305Ter
ENST00000713593.1:c.*6384C>T (ATM)	ENSP00000518889.1:n.*6384C>T
ENST00000278616.9:c.6913C>T (ATM)	ENSP00000278616.4:p.Gln2305Ter
ENST00000525056.2:n.1332C>T (ATM)
ENST00000682286.1:n.1670C>T (ATM)
ENST00000682302.1:n.1331C>T (ATM)
ENST00000683174.1:n.8397C>T (ATM)
ENST00000683524.1:n.2137C>T (ATM)
ENST00000684152.1:n.2627C>T (ATM)
ENST00000527805.6:c.*1977C>T (ATM)	ENSP00000435747.2:n.*1977C>T
ENST00000675595.1:c.*2048C>T (ATM)	ENSP00000502563.1:n.*2048C>T
ENST00000675843.1:c.6913C>T (ATM) MANE Select	ENSP00000501606.1:p.Gln2305Ter
ENST00000278616.8:c.6913C>T (ATM)	ENSP00000278616.4:p.Gln2305Ter
ENST00000452508.6:c.6913C>T (ATM)	ENSP00000388058.2:p.Gln2305Ter
ENST00000524792.5:n.3128C>T (ATM)
ENST00000525729.5:c.641-17092G>A (C11orf65)	ENSP00000433395.1:n.641-17092G>A
ENST00000533690.5:n.2317C>T (ATM)
NM_000051.3:c.6913C>T , LRG_135t1:c.6913C>T (ATM)	NP_000042.3:p.Gln2305Ter
XM_005271561.3:c.6913C>T (ATM)	XP_005271618.2:p.Gln2305Ter
XM_005271562.3:c.6913C>T (ATM)	XP_005271619.2:p.Gln2305Ter
XM_006718843.2:c.6913C>T (ATM)	XP_006718906.1:p.Gln2305Ter
XM_006718845.1:c.2869C>T (ATM)	XP_006718908.1:p.Gln957Ter
XM_011542840.1:c.6913C>T (ATM)	XP_011541142.1:p.Gln2305Ter
XM_011542841.1:c.6913C>T (ATM)	XP_011541143.1:p.Gln2305Ter
XM_011542842.1:c.6748C>T (ATM)	XP_011541144.1:p.Gln2250Ter
XM_011542843.1:c.6913C>T (ATM)	XP_011541145.1:p.Gln2305Ter
XM_011542844.1:c.5869C>T (ATM)	XP_011541146.1:p.Gln1957Ter
XM_011542845.1:c.5605C>T (ATM)	XP_011541147.1:p.Gln1869Ter
XM_011542847.1:c.1984C>T (ATM)	XP_011541149.1:p.Gln662Ter
NM_001330368.1:c.641-17092G>A (C11orf65)	NP_001317297.1:n.641-17092G>A
NM_001351110.1:c.*38+9057G>A (C11orf65)	NP_001338039.1:n.*38+9057G>A
NM_001351834.1:c.6913C>T (ATM)	NP_001338763.1:p.Gln2305Ter
XM_005271562.5:c.6913C>T (ATM)	XP_005271619.2:p.Gln2305Ter
XM_006718843.4:c.6913C>T (ATM)	XP_006718906.1:p.Gln2305Ter
XM_006718845.2:c.2869C>T (ATM)	XP_006718908.1:p.Gln957Ter
XM_011542840.3:c.6913C>T (ATM)	XP_011541142.1:p.Gln2305Ter
XM_011542842.3:c.6748C>T (ATM)	XP_011541144.1:p.Gln2250Ter
XM_011542843.2:c.6913C>T (ATM)	XP_011541145.1:p.Gln2305Ter
XM_011542844.3:c.5869C>T (ATM)	XP_011541146.1:p.Gln1957Ter
XM_011542845.2:c.5605C>T (ATM)	XP_011541147.1:p.Gln1869Ter
XM_017017789.2:c.6913C>T (ATM)	XP_016873278.1:p.Gln2305Ter
XM_017017790.2:c.6913C>T (ATM)	XP_016873279.1:p.Gln2305Ter
NM_001330368.2:c.641-17092G>A (C11orf65)	NP_001317297.1:n.641-17092G>A
NM_001351110.2:c.*38+9057G>A (C11orf65)	NP_001338039.1:n.*38+9057G>A
NM_001351834.2:c.6913C>T (ATM)	NP_001338763.1:p.Gln2305Ter
NM_000051.4:c.6913C>T (ATM) MANE Select	NP_000042.3:p.Gln2305Ter