Canonical Allele Identifier: CA1906159
Community Standard Title: NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala)
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151499371A>G , CM000664.2:g.151499371A>G GRCh38
NC_000002.11:g.152355885A>G , CM000664.1:g.152355885A>G GRCh37
NC_000002.10:g.152064131A>G NCBI36
NG_009382.2:g.240117T>C , LRG_202:g.240117T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001164508.2:c.24041T>C (NEB) MANE Select NP_001157980.2:p.Val8014Ala
ENST00000397345.8:c.24041T>C (NEB) MANE Select ENSP00000380505.3:p.Val8014Ala
NM_001164507.2:c.24041T>C (NEB) MANE Plus Clinical NP_001157979.2:p.Val8014Ala
ENST00000427231.7:c.24041T>C (NEB) MANE Plus Clinical ENSP00000416578.2:p.Val8014Ala
NM_001164507.1:c.24041T>C (NEB) NP_001157979.1:p.Val8014Ala
NM_001164508.1:c.24041T>C (NEB) NP_001157980.1:p.Val8014Ala
NM_001271208.1:c.24146T>C , LRG_202t1:c.24146T>C (NEB) NP_001258137.1:p.Val8049Ala
NM_001271208.2:c.24146T>C (NEB) NP_001258137.2:p.Val8049Ala
NM_004543.4:c.18826-3003T>C (NEB) NP_004534.2:n.18826-3003T>C
NM_004543.5:c.18826-3003T>C (NEB) NP_004534.3:n.18826-3003T>C
ENST00000172853.14:c.18826-3003T>C (NEB) ENSP00000172853.10:n.18826-3003T>C
ENST00000397337.6:c.516-1019T>C (NEB)
ENST00000397345.7:c.24041T>C (NEB) ENSP00000380505.3:p.Val8014Ala
ENST00000409198.5:c.18826-3003T>C (NEB) ENSP00000386259.1:n.18826-3003T>C
ENST00000413693.5:c.8026-3003T>C (NEB) ENSP00000410961.1:n.8026-3003T>C
ENST00000421461.6:c.551-1019T>C (NEB)
ENST00000424585.1:c.610-2338T>C (NEB) ENSP00000404876.1:n.610-2338T>C
ENST00000427231.6:c.24041T>C (NEB) ENSP00000416578.2:p.Val8014Ala
ENST00000434685.5:c.1395-5118T>C (NEB)
ENST00000434685.6:c.3074+6107T>C (NEB)
ENST00000454583.6:c.2780A>G (RIF1)
ENST00000498015.2:n.225+6107T>C (NEB)
ENST00000603639.5:c.24041T>C (NEB) ENSP00000473894.1:p.Val8014Ala
ENST00000604864.5:c.24041T>C (NEB) ENSP00000474498.1:p.Val8014Ala
ENST00000618972.4:c.24146T>C (NEB) ENSP00000484342.1:p.Val8049Ala
ENST00000688578.1:c.826T>C (NEB)
ENST00000690043.1:c.6378-5118T>C (NEB)
ENST00000693000.1:n.2656+6107T>C (NEB)
XM_005246590.1:c.23948T>C (NEB) XP_005246647.1:p.Val7983Ala
XM_005246590.2:c.23948T>C (NEB) XP_005246647.1:p.Val7983Ala
XM_005246591.1:c.24022-1019T>C (NEB) XP_005246648.1:n.24022-1019T>C
XM_005246591.2:c.24022-1019T>C (NEB) XP_005246648.1:n.24022-1019T>C
XM_005246592.1:c.24041T>C (NEB) XP_005246649.1:p.Val8014Ala
XM_005246592.2:c.24041T>C (NEB) XP_005246649.1:p.Val8014Ala
XM_005246593.1:c.24041T>C (NEB) XP_005246650.1:p.Val8014Ala
XM_005246593.2:c.24041T>C (NEB) XP_005246650.1:p.Val8014Ala
XM_005246594.1:c.23948T>C (NEB) XP_005246651.1:p.Val7983Ala
XM_005246594.2:c.23948T>C (NEB) XP_005246651.1:p.Val7983Ala
XM_005246595.1:c.23948T>C (NEB) XP_005246652.1:p.Val7983Ala
XM_005246596.1:c.23929-1019T>C (NEB) XP_005246653.1:n.23929-1019T>C
XM_005246596.2:c.23929-1019T>C (NEB) XP_005246653.1:n.23929-1019T>C
XM_005246597.1:c.24041T>C (NEB) XP_005246654.1:p.Val8014Ala
XM_005246597.2:c.24041T>C (NEB) XP_005246654.1:p.Val8014Ala
XM_005246598.1:c.24041T>C (NEB) XP_005246655.1:p.Val8014Ala
XM_005246598.2:c.24041T>C (NEB) XP_005246655.1:p.Val8014Ala
XM_005246599.1:c.23929-1653T>C (NEB) XP_005246656.1:n.23929-1653T>C
XM_005246599.2:c.23929-1653T>C (NEB) XP_005246656.1:n.23929-1653T>C
XM_005246600.1:c.23836-1019T>C (NEB) XP_005246657.1:n.23836-1019T>C
XM_005246601.1:c.23929-2338T>C (NEB) XP_005246658.1:n.23929-2338T>C
XM_005246601.2:c.23929-2338T>C (NEB) XP_005246658.1:n.23929-2338T>C
XM_005246602.1:c.23836-1653T>C (NEB) XP_005246659.1:n.23836-1653T>C
XM_005246602.2:c.23836-1653T>C (NEB) XP_005246659.1:n.23836-1653T>C
XM_005246603.1:c.23929-3003T>C (NEB) XP_005246660.1:n.23929-3003T>C
XM_005246603.2:c.23929-3003T>C (NEB) XP_005246660.1:n.23929-3003T>C
XM_005246604.1:c.23929-2338T>C (NEB) XP_005246661.1:n.23929-2338T>C
XM_005246604.2:c.23929-2338T>C (NEB) XP_005246661.1:n.23929-2338T>C
XM_005246606.1:c.23836-1653T>C (NEB) XP_005246663.1:n.23836-1653T>C
XM_005246606.2:c.23836-1653T>C (NEB) XP_005246663.1:n.23836-1653T>C
XM_005246608.1:c.23928+3422T>C (NEB) XP_005246665.1:n.23928+3422T>C
XM_005246608.2:c.23928+3422T>C (NEB) XP_005246665.1:n.23928+3422T>C
XM_005246610.1:c.23835+3978T>C (NEB) XP_005246667.1:n.23835+3978T>C
XM_005246610.2:c.23835+3978T>C (NEB) XP_005246667.1:n.23835+3978T>C
XM_005246611.1:c.24021+2020T>C (NEB) XP_005246668.1:n.24021+2020T>C
XM_005246611.2:c.24021+2020T>C (NEB) XP_005246668.1:n.24021+2020T>C
XM_005246612.1:c.23312T>C (NEB) XP_005246669.1:p.Val7771Ala
XM_005246612.2:c.23312T>C (NEB) XP_005246669.1:p.Val7771Ala
XM_005246613.1:c.23312T>C (NEB) XP_005246670.1:p.Val7771Ala
XM_005246613.2:c.23312T>C (NEB) XP_005246670.1:p.Val7771Ala
XM_005246615.1:c.23836-1653T>C (NEB) XP_005246672.1:n.23836-1653T>C
XM_005246615.2:c.23836-1653T>C (NEB) XP_005246672.1:n.23836-1653T>C
XM_005246616.1:c.23929-1019T>C (NEB) XP_005246673.1:n.23929-1019T>C
XM_005246617.1:c.21125T>C (NEB) XP_005246674.1:p.Val7042Ala
XM_005246617.2:c.21125T>C (NEB) XP_005246674.1:p.Val7042Ala
XM_006712541.1:c.23929-3003T>C (NEB) XP_006712604.1:n.23929-3003T>C
XM_006712541.2:c.23929-3003T>C (NEB) XP_006712604.1:n.23929-3003T>C
XM_006712542.1:c.23929-1653T>C (NEB) XP_006712605.1:n.23929-1653T>C
XM_006712542.2:c.23929-1653T>C (NEB) XP_006712605.1:n.23929-1653T>C
XM_011511224.1:c.23948T>C (NEB) XP_011509526.1:p.Val7983Ala
XM_011511225.1:c.23743-5118T>C (NEB) XP_011509527.1:n.23743-5118T>C
XM_011511225.2:c.23743-5118T>C (NEB) XP_011509527.1:n.23743-5118T>C
XM_011511226.1:c.21854T>C (NEB) XP_011509528.1:p.Val7285Ala
XM_011511226.2:c.21854T>C (NEB) XP_011509528.1:p.Val7285Ala
XM_011511227.1:c.19667T>C (NEB) XP_011509529.1:p.Val6556Ala
XM_011511227.2:c.19667T>C (NEB) XP_011509529.1:p.Val6556Ala
XM_017004177.1:c.23930T>C (NEB) XP_016859666.1:p.Val7977Ala
XM_017004178.1:c.23855T>C (NEB) XP_016859667.1:p.Val7952Ala
XM_017004179.1:c.23836-2338T>C (NEB) XP_016859668.1:n.23836-2338T>C
XM_017004180.1:c.23743-1653T>C (NEB) XP_016859669.1:n.23743-1653T>C
XM_017004181.1:c.23836-3003T>C (NEB) XP_016859670.1:n.23836-3003T>C
XM_017004182.1:c.23836-3003T>C (NEB) XP_016859671.1:n.23836-3003T>C
XM_017004183.1:c.23835+3978T>C (NEB) XP_016859672.1:n.23835+3978T>C
XM_017004184.1:c.23836-3003T>C (NEB) XP_016859673.1:n.23836-3003T>C
XM_017004185.1:c.23742+6107T>C (NEB) XP_016859674.1:n.23742+6107T>C
XR_001738811.2:n.9897A>G (RIF1)
XR_001738812.2:n.8312-34A>G (RIF1)
XR_001738813.2:n.9799A>G (RIF1)
XR_001738814.2:n.8214-34A>G (RIF1)
XR_001738815.2:n.8214-3663A>G (RIF1)
XR_001738816.2:n.8214-6839A>G (RIF1)
XR_001738817.2:n.8213+16036A>G (RIF1)
XR_922955.1:n.7838+16036A>G (RIF1)
Search 100 bp 5'
Search 100 bp 3'