Canonical Allele Identifier: CA1906056
Community Standard Title: NM_001164508.2(NEB):c.24402C>G (p.Tyr8134Ter)
Gene: NEB HGNC NCBI
RIF1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151496360G>C , CM000664.2:g.151496360G>C GRCh38
NC_000002.11:g.152352874G>C , CM000664.1:g.152352874G>C GRCh37
NC_000002.10:g.152061120G>C NCBI36
NG_009382.2:g.243128C>G , LRG_202:g.243128C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001164508.2:c.24402C>G (NEB) MANE Select NP_001157980.2:p.Tyr8134Ter
ENST00000397345.8:c.24402C>G (NEB) MANE Select ENSP00000380505.3:p.Tyr8134Ter
NM_001164507.2:c.24402C>G (NEB) MANE Plus Clinical NP_001157979.2:p.Tyr8134Ter
ENST00000427231.7:c.24402C>G (NEB) MANE Plus Clinical ENSP00000416578.2:p.Tyr8134Ter
NM_001164507.1:c.24402C>G (NEB) NP_001157979.1:p.Tyr8134Ter
NM_001164508.1:c.24402C>G (NEB) NP_001157980.1:p.Tyr8134Ter
NM_001271208.1:c.24507C>G , LRG_202t1:c.24507C>G (NEB) NP_001258137.1:p.Tyr8169Ter
NM_001271208.2:c.24507C>G (NEB) NP_001258137.2:p.Tyr8169Ter
NM_004543.4:c.18834C>G (NEB) NP_004534.2:p.Tyr6278Ter
NM_004543.5:c.18834C>G (NEB) NP_004534.3:p.Tyr6278Ter
ENST00000172853.14:c.18834C>G (NEB) ENSP00000172853.10:p.Tyr6278Ter
ENST00000397337.6:c.803C>G (NEB)
ENST00000397345.7:c.24402C>G (NEB) ENSP00000380505.3:p.Tyr8134Ter
ENST00000409198.5:c.18834C>G (NEB) ENSP00000386259.1:p.Tyr6278Ter
ENST00000413693.5:c.8034C>G (NEB) ENSP00000410961.1:p.Tyr2678Ter
ENST00000421461.6:c.838C>G (NEB)
ENST00000424585.1:c.711C>G (NEB) ENSP00000404876.1:p.Tyr237Ter
ENST00000427231.6:c.24402C>G (NEB) ENSP00000416578.2:p.Tyr8134Ter
ENST00000434685.5:c.1395-2107C>G (NEB)
ENST00000434685.6:c.3075-3866C>G (NEB)
ENST00000454583.6:c.2753+1034G>C (RIF1)
ENST00000457745.1:n.578+1034G>C (RIF1)
ENST00000484077.1:n.352+1034G>C (RIF1)
ENST00000498015.2:n.226-3866C>G (NEB)
ENST00000603639.5:c.24402C>G (NEB) ENSP00000473894.1:p.Tyr8134Ter
ENST00000604864.5:c.24402C>G (NEB) ENSP00000474498.1:p.Tyr8134Ter
ENST00000618972.4:c.24507C>G (NEB) ENSP00000484342.1:p.Tyr8169Ter
ENST00000688578.1:c.1001C>G (NEB)
ENST00000690043.1:c.6378-2107C>G (NEB)
ENST00000693000.1:n.2657-3866C>G (NEB)
XM_005246590.1:c.24309C>G (NEB) XP_005246647.1:p.Tyr8103Ter
XM_005246590.2:c.24309C>G (NEB) XP_005246647.1:p.Tyr8103Ter
XM_005246591.1:c.24309C>G (NEB) XP_005246648.1:p.Tyr8103Ter
XM_005246591.2:c.24309C>G (NEB) XP_005246648.1:p.Tyr8103Ter
XM_005246592.1:c.24309C>G (NEB) XP_005246649.1:p.Tyr8103Ter
XM_005246592.2:c.24309C>G (NEB) XP_005246649.1:p.Tyr8103Ter
XM_005246593.1:c.24402C>G (NEB) XP_005246650.1:p.Tyr8134Ter
XM_005246593.2:c.24402C>G (NEB) XP_005246650.1:p.Tyr8134Ter
XM_005246594.1:c.24309C>G (NEB) XP_005246651.1:p.Tyr8103Ter
XM_005246594.2:c.24309C>G (NEB) XP_005246651.1:p.Tyr8103Ter
XM_005246595.1:c.24309C>G (NEB) XP_005246652.1:p.Tyr8103Ter
XM_005246596.1:c.24216C>G (NEB) XP_005246653.1:p.Tyr8072Ter
XM_005246596.2:c.24216C>G (NEB) XP_005246653.1:p.Tyr8072Ter
XM_005246597.1:c.24300+1266C>G (NEB) XP_005246654.1:n.24300+1266C>G
XM_005246597.2:c.24300+1266C>G (NEB) XP_005246654.1:n.24300+1266C>G
XM_005246598.1:c.24402C>G (NEB) XP_005246655.1:p.Tyr8134Ter
XM_005246598.2:c.24402C>G (NEB) XP_005246655.1:p.Tyr8134Ter
XM_005246599.1:c.24123C>G (NEB) XP_005246656.1:p.Tyr8041Ter
XM_005246599.2:c.24123C>G (NEB) XP_005246656.1:p.Tyr8041Ter
XM_005246600.1:c.24123C>G (NEB) XP_005246657.1:p.Tyr8041Ter
XM_005246601.1:c.24030C>G (NEB) XP_005246658.1:p.Tyr8010Ter
XM_005246601.2:c.24030C>G (NEB) XP_005246658.1:p.Tyr8010Ter
XM_005246602.1:c.24030C>G (NEB) XP_005246659.1:p.Tyr8010Ter
XM_005246602.2:c.24030C>G (NEB) XP_005246659.1:p.Tyr8010Ter
XM_005246603.1:c.23937C>G (NEB) XP_005246660.1:p.Tyr7979Ter
XM_005246603.2:c.23937C>G (NEB) XP_005246660.1:p.Tyr7979Ter
XM_005246604.1:c.24030C>G (NEB) XP_005246661.1:p.Tyr8010Ter
XM_005246604.2:c.24030C>G (NEB) XP_005246661.1:p.Tyr8010Ter
XM_005246606.1:c.23937C>G (NEB) XP_005246663.1:p.Tyr7979Ter
XM_005246606.2:c.23937C>G (NEB) XP_005246663.1:p.Tyr7979Ter
XM_005246608.1:c.23929-2107C>G (NEB) XP_005246665.1:n.23929-2107C>G
XM_005246608.2:c.23929-2107C>G (NEB) XP_005246665.1:n.23929-2107C>G
XM_005246610.1:c.23836-2107C>G (NEB) XP_005246667.1:n.23836-2107C>G
XM_005246610.2:c.23836-2107C>G (NEB) XP_005246667.1:n.23836-2107C>G
XM_005246611.1:c.24022-2915C>G (NEB) XP_005246668.1:n.24022-2915C>G
XM_005246611.2:c.24022-2915C>G (NEB) XP_005246668.1:n.24022-2915C>G
XM_005246612.1:c.23673C>G (NEB) XP_005246669.1:p.Tyr7891Ter
XM_005246612.2:c.23673C>G (NEB) XP_005246669.1:p.Tyr7891Ter
XM_005246613.1:c.23673C>G (NEB) XP_005246670.1:p.Tyr7891Ter
XM_005246613.2:c.23673C>G (NEB) XP_005246670.1:p.Tyr7891Ter
XM_005246615.1:c.23928+1266C>G (NEB) XP_005246672.1:n.23928+1266C>G
XM_005246615.2:c.23928+1266C>G (NEB) XP_005246672.1:n.23928+1266C>G
XM_005246617.1:c.21486C>G (NEB) XP_005246674.1:p.Tyr7162Ter
XM_005246617.2:c.21486C>G (NEB) XP_005246674.1:p.Tyr7162Ter
XM_006712541.1:c.23937C>G (NEB) XP_006712604.1:p.Tyr7979Ter
XM_006712541.2:c.23937C>G (NEB) XP_006712604.1:p.Tyr7979Ter
XM_006712542.1:c.24021+1266C>G (NEB) XP_006712605.1:n.24021+1266C>G
XM_006712542.2:c.24021+1266C>G (NEB) XP_006712605.1:n.24021+1266C>G
XM_011511224.1:c.24309C>G (NEB) XP_011509526.1:p.Tyr8103Ter
XM_011511225.1:c.23743-2107C>G (NEB) XP_011509527.1:n.23743-2107C>G
XM_011511225.2:c.23743-2107C>G (NEB) XP_011509527.1:n.23743-2107C>G
XM_011511226.1:c.22215C>G (NEB) XP_011509528.1:p.Tyr7405Ter
XM_011511226.2:c.22215C>G (NEB) XP_011509528.1:p.Tyr7405Ter
XM_011511227.1:c.20028C>G (NEB) XP_011509529.1:p.Tyr6676Ter
XM_011511227.2:c.20028C>G (NEB) XP_011509529.1:p.Tyr6676Ter
XM_017004177.1:c.24291C>G (NEB) XP_016859666.1:p.Tyr8097Ter
XM_017004178.1:c.24216C>G (NEB) XP_016859667.1:p.Tyr8072Ter
XM_017004179.1:c.23937C>G (NEB) XP_016859668.1:p.Tyr7979Ter
XM_017004180.1:c.23937C>G (NEB) XP_016859669.1:p.Tyr7979Ter
XM_017004181.1:c.23844C>G (NEB) XP_016859670.1:p.Tyr7948Ter
XM_017004182.1:c.23844C>G (NEB) XP_016859671.1:p.Tyr7948Ter
XM_017004183.1:c.23836-2107C>G (NEB) XP_016859672.1:n.23836-2107C>G
XM_017004184.1:c.23844C>G (NEB) XP_016859673.1:p.Tyr7948Ter
XM_017004185.1:c.23743-3866C>G (NEB) XP_016859674.1:n.23743-3866C>G
XR_001738811.2:n.8311+1034G>C (RIF1)
XR_001738812.2:n.8311+1034G>C (RIF1)
XR_001738813.2:n.8214-1426G>C (RIF1)
XR_001738814.2:n.8214-3045G>C (RIF1)
XR_001738815.2:n.8214-6674G>C (RIF1)
XR_001738816.2:n.8214-9850G>C (RIF1)
XR_001738817.2:n.8213+13025G>C (RIF1)
XR_922955.1:n.7838+13025G>C (RIF1)
XR_922956.1:n.7936+1034G>C (RIF1)
XR_922957.1:n.7839-1426G>C (RIF1)
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