Canonical Allele Identifier: CA1905787

Gene: NEB RIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151490497C>T , CM000664.2:g.151490497C>T	GRCh38
NC_000002.11:g.152347011C>T , CM000664.1:g.152347011C>T	GRCh37
NC_000002.10:g.152055257C>T	NCBI36
NG_009382.2:g.248991G>A , LRG_202:g.248991G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001164508.2:c.25172G>A (NEB) MANE Select	NP_001157980.2:p.Arg8391Gln
ENST00000397345.8:c.25172G>A (NEB) MANE Select	ENSP00000380505.3:p.Arg8391Gln
NM_001164507.2:c.25172G>A (NEB) MANE Plus Clinical	NP_001157979.2:p.Arg8391Gln
ENST00000427231.7:c.25172G>A (NEB) MANE Plus Clinical	ENSP00000416578.2:p.Arg8391Gln
NM_001164507.1:c.25172G>A (NEB)	NP_001157979.1:p.Arg8391Gln
NM_001164508.1:c.25172G>A (NEB)	NP_001157980.1:p.Arg8391Gln
NM_001271208.1:c.25277G>A , LRG_202t1:c.25277G>A (NEB)	NP_001258137.1:p.Arg8426Gln
NM_001271208.2:c.25277G>A (NEB)	NP_001258137.2:p.Arg8426Gln
NM_004543.4:c.19604G>A (NEB)	NP_004534.2:p.Arg6535Gln
NM_004543.5:c.19604G>A (NEB)	NP_004534.3:p.Arg6535Gln
ENST00000172853.14:c.19604G>A (NEB)	ENSP00000172853.10:p.Arg6535Gln
ENST00000397337.6:c.1573G>A (NEB)
ENST00000397345.7:c.25172G>A (NEB)	ENSP00000380505.3:p.Arg8391Gln
ENST00000409198.5:c.19604G>A (NEB)	ENSP00000386259.1:p.Arg6535Gln
ENST00000413693.5:c.8618G>A (NEB)	ENSP00000410961.1:p.Arg2873Gln
ENST00000427231.6:c.25172G>A (NEB)	ENSP00000416578.2:p.Arg8391Gln
ENST00000434685.5:c.1894G>A (NEB)
ENST00000434685.6:c.3481G>A (NEB)
ENST00000454583.6:c.2656-4732C>T (RIF1)
ENST00000457745.1:n.480+3741C>T (RIF1)
ENST00000603639.5:c.25172G>A (NEB)	ENSP00000473894.1:p.Arg8391Gln
ENST00000604864.5:c.25172G>A (NEB)	ENSP00000474498.1:p.Arg8391Gln
ENST00000618972.4:c.25277G>A (NEB)	ENSP00000484342.1:p.Arg8426Gln
ENST00000688578.1:c.1771G>A (NEB)
ENST00000689642.1:n.991G>A (NEB)
ENST00000690043.1:c.6877G>A (NEB)
ENST00000693000.1:n.3063G>A (NEB)
XM_005246590.1:c.25079G>A (NEB)	XP_005246647.1:p.Arg8360Gln
XM_005246590.2:c.25079G>A (NEB)	XP_005246647.1:p.Arg8360Gln
XM_005246591.1:c.25079G>A (NEB)	XP_005246648.1:p.Arg8360Gln
XM_005246591.2:c.25079G>A (NEB)	XP_005246648.1:p.Arg8360Gln
XM_005246592.1:c.25079G>A (NEB)	XP_005246649.1:p.Arg8360Gln
XM_005246592.2:c.25079G>A (NEB)	XP_005246649.1:p.Arg8360Gln
XM_005246593.1:c.25079G>A (NEB)	XP_005246650.1:p.Arg8360Gln
XM_005246593.2:c.25079G>A (NEB)	XP_005246650.1:p.Arg8360Gln
XM_005246594.1:c.25079G>A (NEB)	XP_005246651.1:p.Arg8360Gln
XM_005246594.2:c.25079G>A (NEB)	XP_005246651.1:p.Arg8360Gln
XM_005246595.1:c.25079G>A (NEB)	XP_005246652.1:p.Arg8360Gln
XM_005246596.1:c.24986G>A (NEB)	XP_005246653.1:p.Arg8329Gln
XM_005246596.2:c.24986G>A (NEB)	XP_005246653.1:p.Arg8329Gln
XM_005246597.1:c.24986G>A (NEB)	XP_005246654.1:p.Arg8329Gln
XM_005246597.2:c.24986G>A (NEB)	XP_005246654.1:p.Arg8329Gln
XM_005246598.1:c.24986G>A (NEB)	XP_005246655.1:p.Arg8329Gln
XM_005246598.2:c.24986G>A (NEB)	XP_005246655.1:p.Arg8329Gln
XM_005246599.1:c.24893G>A (NEB)	XP_005246656.1:p.Arg8298Gln
XM_005246599.2:c.24893G>A (NEB)	XP_005246656.1:p.Arg8298Gln
XM_005246600.1:c.24893G>A (NEB)	XP_005246657.1:p.Arg8298Gln
XM_005246601.1:c.24800G>A (NEB)	XP_005246658.1:p.Arg8267Gln
XM_005246601.2:c.24800G>A (NEB)	XP_005246658.1:p.Arg8267Gln
XM_005246602.1:c.24800G>A (NEB)	XP_005246659.1:p.Arg8267Gln
XM_005246602.2:c.24800G>A (NEB)	XP_005246659.1:p.Arg8267Gln
XM_005246603.1:c.24707G>A (NEB)	XP_005246660.1:p.Arg8236Gln
XM_005246603.2:c.24707G>A (NEB)	XP_005246660.1:p.Arg8236Gln
XM_005246604.1:c.24707G>A (NEB)	XP_005246661.1:p.Arg8236Gln
XM_005246604.2:c.24707G>A (NEB)	XP_005246661.1:p.Arg8236Gln
XM_005246606.1:c.24707G>A (NEB)	XP_005246663.1:p.Arg8236Gln
XM_005246606.2:c.24707G>A (NEB)	XP_005246663.1:p.Arg8236Gln
XM_005246608.1:c.24614G>A (NEB)	XP_005246665.1:p.Arg8205Gln
XM_005246608.2:c.24614G>A (NEB)	XP_005246665.1:p.Arg8205Gln
XM_005246610.1:c.24521G>A (NEB)	XP_005246667.1:p.Arg8174Gln
XM_005246610.2:c.24521G>A (NEB)	XP_005246667.1:p.Arg8174Gln
XM_005246611.1:c.24521G>A (NEB)	XP_005246668.1:p.Arg8174Gln
XM_005246611.2:c.24521G>A (NEB)	XP_005246668.1:p.Arg8174Gln
XM_005246612.1:c.24443G>A (NEB)	XP_005246669.1:p.Arg8148Gln
XM_005246612.2:c.24443G>A (NEB)	XP_005246669.1:p.Arg8148Gln
XM_005246613.1:c.24443G>A (NEB)	XP_005246670.1:p.Arg8148Gln
XM_005246613.2:c.24443G>A (NEB)	XP_005246670.1:p.Arg8148Gln
XM_005246615.1:c.24428G>A (NEB)	XP_005246672.1:p.Arg8143Gln
XM_005246615.2:c.24428G>A (NEB)	XP_005246672.1:p.Arg8143Gln
XM_005246617.1:c.22256G>A (NEB)	XP_005246674.1:p.Arg7419Gln
XM_005246617.2:c.22256G>A (NEB)	XP_005246674.1:p.Arg7419Gln
XM_006712541.1:c.24707G>A (NEB)	XP_006712604.1:p.Arg8236Gln
XM_006712541.2:c.24707G>A (NEB)	XP_006712604.1:p.Arg8236Gln
XM_006712542.1:c.24707G>A (NEB)	XP_006712605.1:p.Arg8236Gln
XM_006712542.2:c.24707G>A (NEB)	XP_006712605.1:p.Arg8236Gln
XM_011511224.1:c.25079G>A (NEB)	XP_011509526.1:p.Arg8360Gln
XM_011511225.1:c.24428G>A (NEB)	XP_011509527.1:p.Arg8143Gln
XM_011511225.2:c.24428G>A (NEB)	XP_011509527.1:p.Arg8143Gln
XM_011511226.1:c.22985G>A (NEB)	XP_011509528.1:p.Arg7662Gln
XM_011511226.2:c.22985G>A (NEB)	XP_011509528.1:p.Arg7662Gln
XM_011511227.1:c.20798G>A (NEB)	XP_011509529.1:p.Arg6933Gln
XM_011511227.2:c.20798G>A (NEB)	XP_011509529.1:p.Arg6933Gln
XM_017004177.1:c.25061G>A (NEB)	XP_016859666.1:p.Arg8354Gln
XM_017004178.1:c.24986G>A (NEB)	XP_016859667.1:p.Arg8329Gln
XM_017004179.1:c.24707G>A (NEB)	XP_016859668.1:p.Arg8236Gln
XM_017004180.1:c.24707G>A (NEB)	XP_016859669.1:p.Arg8236Gln
XM_017004181.1:c.24614G>A (NEB)	XP_016859670.1:p.Arg8205Gln
XM_017004182.1:c.24521G>A (NEB)	XP_016859671.1:p.Arg8174Gln
XM_017004183.1:c.24428G>A (NEB)	XP_016859672.1:p.Arg8143Gln
XM_017004184.1:c.24428G>A (NEB)	XP_016859673.1:p.Arg8143Gln
XM_017004185.1:c.24149G>A (NEB)	XP_016859674.1:p.Arg8050Gln
XR_001738811.2:n.8214-4732C>T (RIF1)
XR_001738812.2:n.8214-4732C>T (RIF1)
XR_001738813.2:n.8213+7162C>T (RIF1)
XR_001738814.2:n.8213+7162C>T (RIF1)
XR_001738815.2:n.8213+7162C>T (RIF1)
XR_001738816.2:n.8213+7162C>T (RIF1)
XR_001738817.2:n.8213+7162C>T (RIF1)
XR_922954.1:n.7839-4732C>T (RIF1)
XR_922955.1:n.7838+7162C>T (RIF1)
XR_922956.1:n.7839-4732C>T (RIF1)
XR_922957.1:n.7838+7162C>T (RIF1)