Canonical Allele Identifier: CA157147

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 133628
• ClinVar RCV Id: RCV001357876 ; RCV001573283 ; RCV002225362 ; RCV003149823 ; RCV003315727
• dbSNP Id: rs145847315
• ExAC: 11:108186631 A / G
• gnomAD v2: 11-108186631-A-G
• gnomAD v3: 11-108315904-A-G
• gnomAD v4: 11-108315904-A-G
• MyVariant Identifiers: chr11:g.108186631A>G (hg19) ; chr11:g.108315904A>G (hg38)
• PubMed: PMID:11505391 ; PMID:11746755 ; PMID:11849780 ; PMID:17517479 ; PMID:22995991 ; PMID:23891399 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315904A>G , CM000673.2:g.108315904A>G	GRCh38
NC_000011.9:g.108186631A>G , CM000673.1:g.108186631A>G	GRCh37
NC_000011.8:g.107691841A>G	NCBI36
NG_009830.1:g.98073A>G , LRG_135:g.98073A>G
NG_054724.1:g.158929T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6088A>G (ATM)	ENSP00000388058.2:p.Ile2030Val
ENST00000713593.1:c.*5559A>G (ATM)	ENSP00000518889.1:n.*5559A>G
ENST00000278616.9:c.6088A>G (ATM)	ENSP00000278616.4:p.Ile2030Val
ENST00000525056.2:n.507A>G (ATM)
ENST00000682286.1:n.845A>G (ATM)
ENST00000682302.1:n.506A>G (ATM)
ENST00000683174.1:n.7572A>G (ATM)
ENST00000683524.1:n.1312A>G (ATM)
ENST00000684152.1:n.1802A>G (ATM)
ENST00000527805.6:c.*1152A>G (ATM)	ENSP00000435747.2:n.*1152A>G
ENST00000675595.1:c.*1152A>G (ATM)	ENSP00000502563.1:n.*1152A>G
ENST00000675843.1:c.6088A>G (ATM) MANE Select	ENSP00000501606.1:p.Ile2030Val
ENST00000278616.8:c.6088A>G (ATM)	ENSP00000278616.4:p.Ile2030Val
ENST00000452508.6:c.6088A>G (ATM)	ENSP00000388058.2:p.Ile2030Val
ENST00000524792.5:n.2303A>G (ATM)
ENST00000525729.5:c.641-6833T>C (C11orf65)	ENSP00000433395.1:n.641-6833T>C
ENST00000532765.1:n.405A>G (ATM)
ENST00000533690.5:n.1492A>G (ATM)
NM_000051.3:c.6088A>G , LRG_135t1:c.6088A>G (ATM)	NP_000042.3:p.Ile2030Val
XM_005271561.3:c.6088A>G (ATM)	XP_005271618.2:p.Ile2030Val
XM_005271562.3:c.6088A>G (ATM)	XP_005271619.2:p.Ile2030Val
XM_006718843.2:c.6088A>G (ATM)	XP_006718906.1:p.Ile2030Val
XM_006718845.1:c.2044A>G (ATM)	XP_006718908.1:p.Ile682Val
XM_011542840.1:c.6088A>G (ATM)	XP_011541142.1:p.Ile2030Val
XM_011542841.1:c.6088A>G (ATM)	XP_011541143.1:p.Ile2030Val
XM_011542842.1:c.5923A>G (ATM)	XP_011541144.1:p.Ile1975Val
XM_011542843.1:c.6088A>G (ATM)	XP_011541145.1:p.Ile2030Val
XM_011542844.1:c.5044A>G (ATM)	XP_011541146.1:p.Ile1682Val
XM_011542845.1:c.4780A>G (ATM)	XP_011541147.1:p.Ile1594Val
XM_011542847.1:c.1159A>G (ATM)	XP_011541149.1:p.Ile387Val
NM_001330368.1:c.641-6833T>C (C11orf65)	NP_001317297.1:n.641-6833T>C
NM_001351110.1:c.*39-6833T>C (C11orf65)	NP_001338039.1:n.*39-6833T>C
NM_001351834.1:c.6088A>G (ATM)	NP_001338763.1:p.Ile2030Val
XM_005271562.5:c.6088A>G (ATM)	XP_005271619.2:p.Ile2030Val
XM_006718843.4:c.6088A>G (ATM)	XP_006718906.1:p.Ile2030Val
XM_006718845.2:c.2044A>G (ATM)	XP_006718908.1:p.Ile682Val
XM_011542840.3:c.6088A>G (ATM)	XP_011541142.1:p.Ile2030Val
XM_011542842.3:c.5923A>G (ATM)	XP_011541144.1:p.Ile1975Val
XM_011542843.2:c.6088A>G (ATM)	XP_011541145.1:p.Ile2030Val
XM_011542844.3:c.5044A>G (ATM)	XP_011541146.1:p.Ile1682Val
XM_011542845.2:c.4780A>G (ATM)	XP_011541147.1:p.Ile1594Val
XM_017017789.2:c.6088A>G (ATM)	XP_016873278.1:p.Ile2030Val
XM_017017790.2:c.6088A>G (ATM)	XP_016873279.1:p.Ile2030Val
XM_017017791.1:c.6088A>G (ATM)	XP_016873280.1:p.Ile2030Val
NM_001330368.2:c.641-6833T>C (C11orf65)	NP_001317297.1:n.641-6833T>C
NM_001351110.2:c.*39-6833T>C (C11orf65)	NP_001338039.1:n.*39-6833T>C
NM_001351834.2:c.6088A>G (ATM)	NP_001338763.1:p.Ile2030Val
NM_000051.4:c.6088A>G (ATM) MANE Select	NP_000042.3:p.Ile2030Val