Canonical Allele Identifier: CA191422

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 185241
• ClinVar RCV Id: RCV000164624
• dbSNP Id: rs786202025
• MyVariant Identifiers: chr11:g.108202750T>C (hg19) ; chr11:g.108332023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332023T>C , CM000673.2:g.108332023T>C	GRCh38
NC_000011.9:g.108202750T>C , CM000673.1:g.108202750T>C	GRCh37
NC_000011.8:g.107707960T>C	NCBI36
NG_009830.1:g.114192T>C , LRG_135:g.114192T>C
NG_054724.1:g.142810A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7774T>C (ATM)	ENSP00000388058.2:p.Ser2592Pro
ENST00000713593.1:c.*7245T>C (ATM)	ENSP00000518889.1:n.*7245T>C
ENST00000278616.9:c.7774T>C (ATM)	ENSP00000278616.4:p.Ser2592Pro
ENST00000525056.2:n.2193T>C (ATM)
ENST00000525537.3:n.731T>C (ATM)
ENST00000638786.2:n.611T>C (ATM)
ENST00000682286.1:n.2531T>C (ATM)
ENST00000682302.1:n.2192T>C (ATM)
ENST00000683174.1:n.9258T>C (ATM)
ENST00000683524.1:n.2998T>C (ATM)
ENST00000684152.1:n.3343+466T>C (ATM)
ENST00000684447.1:n.2558T>C (ATM)
ENST00000527805.6:c.*2838T>C (ATM)	ENSP00000435747.2:n.*2838T>C
ENST00000675595.1:c.*2909T>C (ATM)	ENSP00000502563.1:n.*2909T>C
ENST00000675843.1:c.7774T>C (ATM) MANE Select	ENSP00000501606.1:p.Ser2592Pro
ENST00000278616.8:c.7774T>C (ATM)	ENSP00000278616.4:p.Ser2592Pro
ENST00000452508.6:c.7774T>C (ATM)	ENSP00000388058.2:p.Ser2592Pro
ENST00000524755.5:c.300-456A>G (C11orf65)
ENST00000524792.5:n.3989T>C (ATM)
ENST00000525729.5:c.641-22952A>G (C11orf65)	ENSP00000433395.1:n.641-22952A>G
ENST00000527531.5:c.*1270-456A>G (C11orf65)	ENSP00000431706.1:n.*1270-456A>G
ENST00000533690.5:n.3178T>C (ATM)
ENST00000615746.4:c.*1270-456A>G (C11orf65)	ENSP00000483537.1:n.*1270-456A>G
NM_000051.3:c.7774T>C , LRG_135t1:c.7774T>C (ATM)	NP_000042.3:p.Ser2592Pro
XM_005271414.3:c.*39-456A>G (C11orf65)	XP_005271471.1:n.*39-456A>G
XM_005271415.3:c.805-456A>G (C11orf65)	XP_005271472.1:n.805-456A>G
XM_005271561.3:c.7774T>C (ATM)	XP_005271618.2:p.Ser2592Pro
XM_005271562.3:c.7774T>C (ATM)	XP_005271619.2:p.Ser2592Pro
XM_006718843.2:c.7774T>C (ATM)	XP_006718906.1:p.Ser2592Pro
XM_006718845.1:c.3730T>C (ATM)	XP_006718908.1:p.Ser1244Pro
XM_011542840.1:c.7774T>C (ATM)	XP_011541142.1:p.Ser2592Pro
XM_011542841.1:c.7774T>C (ATM)	XP_011541143.1:p.Ser2592Pro
XM_011542842.1:c.7609T>C (ATM)	XP_011541144.1:p.Ser2537Pro
XM_011542843.1:c.7774T>C (ATM)	XP_011541145.1:p.Ser2592Pro
XM_011542844.1:c.6730T>C (ATM)	XP_011541146.1:p.Ser2244Pro
XM_011542845.1:c.6466T>C (ATM)	XP_011541147.1:p.Ser2156Pro
XM_011542847.1:c.2845T>C (ATM)	XP_011541149.1:p.Ser949Pro
NM_001330368.1:c.641-22952A>G (C11orf65)	NP_001317297.1:n.641-22952A>G
NM_001351110.1:c.*38+3197A>G (C11orf65)	NP_001338039.1:n.*38+3197A>G
NM_001351834.1:c.7774T>C (ATM)	NP_001338763.1:p.Ser2592Pro
NR_147053.2:n.2375-456A>G (C11orf65)
XM_005271414.4:c.*39-456A>G (C11orf65)	XP_005271471.1:n.*39-456A>G
XM_005271415.4:c.805-456A>G (C11orf65)	XP_005271472.1:n.805-456A>G
XM_005271562.5:c.7774T>C (ATM)	XP_005271619.2:p.Ser2592Pro
XM_006718843.4:c.7774T>C (ATM)	XP_006718906.1:p.Ser2592Pro
XM_006718845.2:c.3730T>C (ATM)	XP_006718908.1:p.Ser1244Pro
XM_011542840.3:c.7774T>C (ATM)	XP_011541142.1:p.Ser2592Pro
XM_011542842.3:c.7609T>C (ATM)	XP_011541144.1:p.Ser2537Pro
XM_011542843.2:c.7774T>C (ATM)	XP_011541145.1:p.Ser2592Pro
XM_011542844.3:c.6730T>C (ATM)	XP_011541146.1:p.Ser2244Pro
XM_011542845.2:c.6466T>C (ATM)	XP_011541147.1:p.Ser2156Pro
XM_017017789.2:c.7774T>C (ATM)	XP_016873278.1:p.Ser2592Pro
XM_017017790.2:c.7774T>C (ATM)	XP_016873279.1:p.Ser2592Pro
NM_001330368.2:c.641-22952A>G (C11orf65)	NP_001317297.1:n.641-22952A>G
NM_001351110.2:c.*38+3197A>G (C11orf65)	NP_001338039.1:n.*38+3197A>G
NM_001351834.2:c.7774T>C (ATM)	NP_001338763.1:p.Ser2592Pro
NM_000051.4:c.7774T>C (ATM) MANE Select	NP_000042.3:p.Ser2592Pro
NR_147053.3:n.2373-456A>G (C11orf65)