Canonical Allele Identifier: CA348778745

Gene: NEB RIF1

Linked Data

• MyVariant Identifiers: chr2:g.152354149A>C (hg19) ; chr2:g.151497635A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.151497635A>C , CM000664.2:g.151497635A>C	GRCh38
NC_000002.11:g.152354149A>C , CM000664.1:g.152354149A>C	GRCh37
NC_000002.10:g.152062395A>C	NCBI36
NG_009382.2:g.241853T>G , LRG_202:g.241853T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434685.6:c.3075-5141T>G (NEB)
ENST00000688578.1:c.900-602T>G (NEB)
ENST00000690043.1:c.6378-3382T>G (NEB)
ENST00000693000.1:n.2657-5141T>G (NEB)
ENST00000397345.8:c.24291T>G (NEB) MANE Select	ENSP00000380505.3:p.Asn8097Lys
ENST00000427231.7:c.24291T>G (NEB) MANE Plus Clinical	ENSP00000416578.2:p.Asn8097Lys
ENST00000172853.14:c.18826-1267T>G (NEB)	ENSP00000172853.10:n.18826-1267T>G
ENST00000397337.6:c.692T>G (NEB)
ENST00000397345.7:c.24291T>G (NEB)	ENSP00000380505.3:p.Asn8097Lys
ENST00000409198.5:c.18826-1267T>G (NEB)	ENSP00000386259.1:n.18826-1267T>G
ENST00000413693.5:c.8026-1267T>G (NEB)	ENSP00000410961.1:n.8026-1267T>G
ENST00000421461.6:c.727T>G (NEB)
ENST00000424585.1:c.610-602T>G (NEB)	ENSP00000404876.1:n.610-602T>G
ENST00000427231.6:c.24291T>G (NEB)	ENSP00000416578.2:p.Asn8097Lys
ENST00000434685.5:c.1395-3382T>G (NEB)
ENST00000454583.6:c.2754-1710A>C (RIF1)
ENST00000457745.1:n.579-151A>C (RIF1)
ENST00000484077.1:n.353-151A>C (RIF1)
ENST00000498015.2:n.226-5141T>G (NEB)
ENST00000603639.5:c.24291T>G (NEB)	ENSP00000473894.1:p.Asn8097Lys
ENST00000604864.5:c.24291T>G (NEB)	ENSP00000474498.1:p.Asn8097Lys
ENST00000618972.4:c.24396T>G (NEB)	ENSP00000484342.1:p.Asn8132Lys
NM_001164507.1:c.24291T>G (NEB)	NP_001157979.1:p.Asn8097Lys
NM_001164508.1:c.24291T>G (NEB)	NP_001157980.1:p.Asn8097Lys
NM_001271208.1:c.24396T>G , LRG_202t1:c.24396T>G (NEB)	NP_001258137.1:p.Asn8132Lys
NM_004543.4:c.18826-1267T>G (NEB)	NP_004534.2:n.18826-1267T>G
XM_005246590.1:c.24198T>G (NEB)	XP_005246647.1:p.Asn8066Lys
XM_005246591.1:c.24198T>G (NEB)	XP_005246648.1:p.Asn8066Lys
XM_005246592.1:c.24291T>G (NEB)	XP_005246649.1:p.Asn8097Lys
XM_005246593.1:c.24291T>G (NEB)	XP_005246650.1:p.Asn8097Lys
XM_005246594.1:c.24198T>G (NEB)	XP_005246651.1:p.Asn8066Lys
XM_005246595.1:c.24198T>G (NEB)	XP_005246652.1:p.Asn8066Lys
XM_005246596.1:c.24105T>G (NEB)	XP_005246653.1:p.Asn8035Lys
XM_005246597.1:c.24291T>G (NEB)	XP_005246654.1:p.Asn8097Lys
XM_005246598.1:c.24291T>G (NEB)	XP_005246655.1:p.Asn8097Lys
XM_005246599.1:c.24012T>G (NEB)	XP_005246656.1:p.Asn8004Lys
XM_005246600.1:c.24012T>G (NEB)	XP_005246657.1:p.Asn8004Lys
XM_005246601.1:c.23929-602T>G (NEB)	XP_005246658.1:n.23929-602T>G
XM_005246602.1:c.23919T>G (NEB)	XP_005246659.1:p.Asn7973Lys
XM_005246603.1:c.23929-1267T>G (NEB)	XP_005246660.1:n.23929-1267T>G
XM_005246604.1:c.23929-602T>G (NEB)	XP_005246661.1:n.23929-602T>G
XM_005246606.1:c.23919T>G (NEB)	XP_005246663.1:p.Asn7973Lys
XM_005246608.1:c.23929-3382T>G (NEB)	XP_005246665.1:n.23929-3382T>G
XM_005246610.1:c.23836-3382T>G (NEB)	XP_005246667.1:n.23836-3382T>G
XM_005246611.1:c.24021+3756T>G (NEB)	XP_005246668.1:n.24021+3756T>G
XM_005246612.1:c.23562T>G (NEB)	XP_005246669.1:p.Asn7854Lys
XM_005246613.1:c.23562T>G (NEB)	XP_005246670.1:p.Asn7854Lys
XM_005246615.1:c.23919T>G (NEB)	XP_005246672.1:p.Asn7973Lys
XM_005246616.1:c.*589T>G (NEB)	XP_005246673.1:n.*589T>G
XM_005246617.1:c.21375T>G (NEB)	XP_005246674.1:p.Asn7125Lys
XM_006712541.1:c.23929-1267T>G (NEB)	XP_006712604.1:n.23929-1267T>G
XM_006712542.1:c.24012T>G (NEB)	XP_006712605.1:p.Asn8004Lys
XM_011511224.1:c.24198T>G (NEB)	XP_011509526.1:p.Asn8066Lys
XM_011511225.1:c.23743-3382T>G (NEB)	XP_011509527.1:n.23743-3382T>G
XM_011511226.1:c.22104T>G (NEB)	XP_011509528.1:p.Asn7368Lys
XM_011511227.1:c.19917T>G (NEB)	XP_011509529.1:p.Asn6639Lys
XR_922955.1:n.7838+14300A>C (RIF1)
XR_922956.1:n.7937-151A>C (RIF1)
XR_922957.1:n.7839-151A>C (RIF1)
XM_005246590.2:c.24198T>G (NEB)	XP_005246647.1:p.Asn8066Lys
XM_005246591.2:c.24198T>G (NEB)	XP_005246648.1:p.Asn8066Lys
XM_005246592.2:c.24291T>G (NEB)	XP_005246649.1:p.Asn8097Lys
XM_005246593.2:c.24291T>G (NEB)	XP_005246650.1:p.Asn8097Lys
XM_005246594.2:c.24198T>G (NEB)	XP_005246651.1:p.Asn8066Lys
XM_005246596.2:c.24105T>G (NEB)	XP_005246653.1:p.Asn8035Lys
XM_005246597.2:c.24291T>G (NEB)	XP_005246654.1:p.Asn8097Lys
XM_005246598.2:c.24291T>G (NEB)	XP_005246655.1:p.Asn8097Lys
XM_005246599.2:c.24012T>G (NEB)	XP_005246656.1:p.Asn8004Lys
XM_005246601.2:c.23929-602T>G (NEB)	XP_005246658.1:n.23929-602T>G
XM_005246602.2:c.23919T>G (NEB)	XP_005246659.1:p.Asn7973Lys
XM_005246603.2:c.23929-1267T>G (NEB)	XP_005246660.1:n.23929-1267T>G
XM_005246604.2:c.23929-602T>G (NEB)	XP_005246661.1:n.23929-602T>G
XM_005246606.2:c.23919T>G (NEB)	XP_005246663.1:p.Asn7973Lys
XM_005246608.2:c.23929-3382T>G (NEB)	XP_005246665.1:n.23929-3382T>G
XM_005246610.2:c.23836-3382T>G (NEB)	XP_005246667.1:n.23836-3382T>G
XM_005246611.2:c.24021+3756T>G (NEB)	XP_005246668.1:n.24021+3756T>G
XM_005246612.2:c.23562T>G (NEB)	XP_005246669.1:p.Asn7854Lys
XM_005246613.2:c.23562T>G (NEB)	XP_005246670.1:p.Asn7854Lys
XM_005246615.2:c.23919T>G (NEB)	XP_005246672.1:p.Asn7973Lys
XM_005246617.2:c.21375T>G (NEB)	XP_005246674.1:p.Asn7125Lys
XM_006712541.2:c.23929-1267T>G (NEB)	XP_006712604.1:n.23929-1267T>G
XM_006712542.2:c.24012T>G (NEB)	XP_006712605.1:p.Asn8004Lys
XM_011511225.2:c.23743-3382T>G (NEB)	XP_011509527.1:n.23743-3382T>G
XM_011511226.2:c.22104T>G (NEB)	XP_011509528.1:p.Asn7368Lys
XM_011511227.2:c.19917T>G (NEB)	XP_011509529.1:p.Asn6639Lys
XM_017004177.1:c.24180T>G (NEB)	XP_016859666.1:p.Asn8060Lys
XM_017004178.1:c.24105T>G (NEB)	XP_016859667.1:p.Asn8035Lys
XM_017004179.1:c.23836-602T>G (NEB)	XP_016859668.1:n.23836-602T>G
XM_017004180.1:c.23826T>G (NEB)	XP_016859669.1:p.Asn7942Lys
XM_017004181.1:c.23836-1267T>G (NEB)	XP_016859670.1:n.23836-1267T>G
XM_017004182.1:c.23836-1267T>G (NEB)	XP_016859671.1:n.23836-1267T>G
XM_017004183.1:c.23836-3382T>G (NEB)	XP_016859672.1:n.23836-3382T>G
XM_017004184.1:c.23836-1267T>G (NEB)	XP_016859673.1:n.23836-1267T>G
XM_017004185.1:c.23743-5141T>G (NEB)	XP_016859674.1:n.23743-5141T>G
XR_001738811.2:n.8312-151A>C (RIF1)
XR_001738812.2:n.8312-1770A>C (RIF1)
XR_001738813.2:n.8214-151A>C (RIF1)
XR_001738814.2:n.8214-1770A>C (RIF1)
XR_001738815.2:n.8214-5399A>C (RIF1)
XR_001738816.2:n.8214-8575A>C (RIF1)
XR_001738817.2:n.8213+14300A>C (RIF1)
NM_001271208.2:c.24396T>G (NEB)	NP_001258137.2:p.Asn8132Lys
NM_004543.5:c.18826-1267T>G (NEB)	NP_004534.3:n.18826-1267T>G
NM_001164507.2:c.24291T>G (NEB) MANE Plus Clinical	NP_001157979.2:p.Asn8097Lys
NM_001164508.2:c.24291T>G (NEB) MANE Select	NP_001157980.2:p.Asn8097Lys