Canonical Allele Identifier: CA382559953

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 481101
• ClinVar RCV Id: RCV000572756 ; RCV000671090 ; RCV002298670
• dbSNP Id: rs1555123032
• gnomAD v4: 11-108330261-T-C
• COSMIC: COSM3368199 ; COSM3368200
• MyVariant Identifiers: chr11:g.108200988T>C (hg19) ; chr11:g.108330261T>C (hg38)
• PubMed: PMID:19431188 ; PMID:21787400

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330261T>C , CM000673.2:g.108330261T>C	GRCh38
NC_000011.9:g.108200988T>C , CM000673.1:g.108200988T>C	GRCh37
NC_000011.8:g.107706198T>C	NCBI36
NG_009830.1:g.112430T>C , LRG_135:g.112430T>C
NG_054724.1:g.144572A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7355T>C (ATM)	ENSP00000388058.2:p.Leu2452Pro
ENST00000713593.1:c.*6826T>C (ATM)	ENSP00000518889.1:n.*6826T>C
ENST00000278616.9:c.7355T>C (ATM)	ENSP00000278616.4:p.Leu2452Pro
ENST00000525056.2:n.1774T>C (ATM)
ENST00000525537.3:n.312T>C (ATM)
ENST00000638786.2:n.192T>C (ATM)
ENST00000682286.1:n.2112T>C (ATM)
ENST00000682302.1:n.1773T>C (ATM)
ENST00000683174.1:n.8839T>C (ATM)
ENST00000683524.1:n.2579T>C (ATM)
ENST00000684152.1:n.3069T>C (ATM)
ENST00000684447.1:n.1818T>C (ATM)
ENST00000527805.6:c.*2419T>C (ATM)	ENSP00000435747.2:n.*2419T>C
ENST00000675595.1:c.*2490T>C (ATM)	ENSP00000502563.1:n.*2490T>C
ENST00000675843.1:c.7355T>C (ATM) MANE Select	ENSP00000501606.1:p.Leu2452Pro
ENST00000278616.8:c.7355T>C (ATM)	ENSP00000278616.4:p.Leu2452Pro
ENST00000452508.6:c.7355T>C (ATM)	ENSP00000388058.2:p.Leu2452Pro
ENST00000524792.5:n.3570T>C (ATM)
ENST00000525729.5:c.641-21190A>G (C11orf65)	ENSP00000433395.1:n.641-21190A>G
ENST00000533690.5:n.2759T>C (ATM)
NM_000051.3:c.7355T>C , LRG_135t1:c.7355T>C (ATM)	NP_000042.3:p.Leu2452Pro
XM_005271561.3:c.7355T>C (ATM)	XP_005271618.2:p.Leu2452Pro
XM_005271562.3:c.7355T>C (ATM)	XP_005271619.2:p.Leu2452Pro
XM_006718843.2:c.7355T>C (ATM)	XP_006718906.1:p.Leu2452Pro
XM_006718845.1:c.3311T>C (ATM)	XP_006718908.1:p.Leu1104Pro
XM_011542840.1:c.7355T>C (ATM)	XP_011541142.1:p.Leu2452Pro
XM_011542841.1:c.7355T>C (ATM)	XP_011541143.1:p.Leu2452Pro
XM_011542842.1:c.7190T>C (ATM)	XP_011541144.1:p.Leu2397Pro
XM_011542843.1:c.7355T>C (ATM)	XP_011541145.1:p.Leu2452Pro
XM_011542844.1:c.6311T>C (ATM)	XP_011541146.1:p.Leu2104Pro
XM_011542845.1:c.6047T>C (ATM)	XP_011541147.1:p.Leu2016Pro
XM_011542847.1:c.2426T>C (ATM)	XP_011541149.1:p.Leu809Pro
NM_001330368.1:c.641-21190A>G (C11orf65)	NP_001317297.1:n.641-21190A>G
NM_001351110.1:c.*38+4959A>G (C11orf65)	NP_001338039.1:n.*38+4959A>G
NM_001351834.1:c.7355T>C (ATM)	NP_001338763.1:p.Leu2452Pro
XM_005271562.5:c.7355T>C (ATM)	XP_005271619.2:p.Leu2452Pro
XM_006718843.4:c.7355T>C (ATM)	XP_006718906.1:p.Leu2452Pro
XM_006718845.2:c.3311T>C (ATM)	XP_006718908.1:p.Leu1104Pro
XM_011542840.3:c.7355T>C (ATM)	XP_011541142.1:p.Leu2452Pro
XM_011542842.3:c.7190T>C (ATM)	XP_011541144.1:p.Leu2397Pro
XM_011542843.2:c.7355T>C (ATM)	XP_011541145.1:p.Leu2452Pro
XM_011542844.3:c.6311T>C (ATM)	XP_011541146.1:p.Leu2104Pro
XM_011542845.2:c.6047T>C (ATM)	XP_011541147.1:p.Leu2016Pro
XM_017017789.2:c.7355T>C (ATM)	XP_016873278.1:p.Leu2452Pro
XM_017017790.2:c.7355T>C (ATM)	XP_016873279.1:p.Leu2452Pro
NM_001330368.2:c.641-21190A>G (C11orf65)	NP_001317297.1:n.641-21190A>G
NM_001351110.2:c.*38+4959A>G (C11orf65)	NP_001338039.1:n.*38+4959A>G
NM_001351834.2:c.7355T>C (ATM)	NP_001338763.1:p.Leu2452Pro
NM_000051.4:c.7355T>C (ATM) MANE Select	NP_000042.3:p.Leu2452Pro