Canonical Allele Identifier: CA382551029

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 489568
• ClinVar RCV Id: RCV000579619 ; RCV000779043 ; RCV003336057
• dbSNP Id: rs1555114558
• gnomAD v4: 11-108317377-T-C
• MyVariant Identifiers: chr11:g.108188104T>C (hg19) ; chr11:g.108317377T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108317377T>C , CM000673.2:g.108317377T>C	GRCh38
NC_000011.9:g.108188104T>C , CM000673.1:g.108188104T>C	GRCh37
NC_000011.8:g.107693314T>C	NCBI36
NG_009830.1:g.99546T>C , LRG_135:g.99546T>C
NG_054724.1:g.157456A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6203T>C (ATM)	ENSP00000388058.2:p.Leu2068Ser
ENST00000713593.1:c.*5674T>C (ATM)	ENSP00000518889.1:n.*5674T>C
ENST00000278616.9:c.6203T>C (ATM)	ENSP00000278616.4:p.Leu2068Ser
ENST00000525056.2:n.622T>C (ATM)
ENST00000682286.1:n.960T>C (ATM)
ENST00000682302.1:n.621T>C (ATM)
ENST00000683174.1:n.7687T>C (ATM)
ENST00000683524.1:n.1427T>C (ATM)
ENST00000684152.1:n.1917T>C (ATM)
ENST00000527805.6:c.*1267T>C (ATM)	ENSP00000435747.2:n.*1267T>C
ENST00000675595.1:c.*1267T>C (ATM)	ENSP00000502563.1:n.*1267T>C
ENST00000675843.1:c.6203T>C (ATM) MANE Select	ENSP00000501606.1:p.Leu2068Ser
ENST00000278616.8:c.6203T>C (ATM)	ENSP00000278616.4:p.Leu2068Ser
ENST00000452508.6:c.6203T>C (ATM)	ENSP00000388058.2:p.Leu2068Ser
ENST00000524792.5:n.2418T>C (ATM)
ENST00000525729.5:c.641-8306A>G (C11orf65)	ENSP00000433395.1:n.641-8306A>G
ENST00000532765.1:n.520T>C (ATM)
ENST00000533690.5:n.1607T>C (ATM)
NM_000051.3:c.6203T>C , LRG_135t1:c.6203T>C (ATM)	NP_000042.3:p.Leu2068Ser
XM_005271561.3:c.6203T>C (ATM)	XP_005271618.2:p.Leu2068Ser
XM_005271562.3:c.6203T>C (ATM)	XP_005271619.2:p.Leu2068Ser
XM_006718843.2:c.6203T>C (ATM)	XP_006718906.1:p.Leu2068Ser
XM_006718845.1:c.2159T>C (ATM)	XP_006718908.1:p.Leu720Ser
XM_011542840.1:c.6203T>C (ATM)	XP_011541142.1:p.Leu2068Ser
XM_011542841.1:c.6203T>C (ATM)	XP_011541143.1:p.Leu2068Ser
XM_011542842.1:c.6038T>C (ATM)	XP_011541144.1:p.Leu2013Ser
XM_011542843.1:c.6203T>C (ATM)	XP_011541145.1:p.Leu2068Ser
XM_011542844.1:c.5159T>C (ATM)	XP_011541146.1:p.Leu1720Ser
XM_011542845.1:c.4895T>C (ATM)	XP_011541147.1:p.Leu1632Ser
XM_011542847.1:c.1274T>C (ATM)	XP_011541149.1:p.Leu425Ser
NM_001330368.1:c.641-8306A>G (C11orf65)	NP_001317297.1:n.641-8306A>G
NM_001351110.1:c.*39-8306A>G (C11orf65)	NP_001338039.1:n.*39-8306A>G
NM_001351834.1:c.6203T>C (ATM)	NP_001338763.1:p.Leu2068Ser
XM_005271562.5:c.6203T>C (ATM)	XP_005271619.2:p.Leu2068Ser
XM_006718843.4:c.6203T>C (ATM)	XP_006718906.1:p.Leu2068Ser
XM_006718845.2:c.2159T>C (ATM)	XP_006718908.1:p.Leu720Ser
XM_011542840.3:c.6203T>C (ATM)	XP_011541142.1:p.Leu2068Ser
XM_011542842.3:c.6038T>C (ATM)	XP_011541144.1:p.Leu2013Ser
XM_011542843.2:c.6203T>C (ATM)	XP_011541145.1:p.Leu2068Ser
XM_011542844.3:c.5159T>C (ATM)	XP_011541146.1:p.Leu1720Ser
XM_011542845.2:c.4895T>C (ATM)	XP_011541147.1:p.Leu1632Ser
XM_017017789.2:c.6203T>C (ATM)	XP_016873278.1:p.Leu2068Ser
XM_017017790.2:c.6203T>C (ATM)	XP_016873279.1:p.Leu2068Ser
XM_017017791.1:c.6203T>C (ATM)	XP_016873280.1:p.Leu2068Ser
NM_001330368.2:c.641-8306A>G (C11orf65)	NP_001317297.1:n.641-8306A>G
NM_001351110.2:c.*39-8306A>G (C11orf65)	NP_001338039.1:n.*39-8306A>G
NM_001351834.2:c.6203T>C (ATM)	NP_001338763.1:p.Leu2068Ser
NM_000051.4:c.6203T>C (ATM) MANE Select	NP_000042.3:p.Leu2068Ser