Canonical Allele Identifier: CA130042
Gene: RBPJ HGNC NCBI

Linked Data

ClinVar Variation Id: 37054
ClinVar RCV Id: RCV000030708
dbSNP Id: rs387907271

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.26420695A>G , CM000666.2:g.26420695A>G GRCh38
NC_000004.11:g.26422317A>G , CM000666.1:g.26422317A>G GRCh37
NC_000004.10:g.26031415A>G NCBI36
NG_030343.1:g.105986A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000689192.1:n.508A>G
ENST00000691085.1:n.492A>G
ENST00000692303.1:n.492A>G
ENST00000342295.6:c.505A>G ENSP00000345206.1:p.Lys169Glu
ENST00000345843.8:c.400A>G ENSP00000305815.6:p.Lys134Glu
ENST00000348160.9:c.463A>G ENSP00000339699.5:p.Lys155Glu
ENST00000355476.8:c.466A>G MANE Select ENSP00000347659.4:p.Lys156Glu
ENST00000504423.2:c.400A>G ENSP00000421804.2:p.Lys134Glu
ENST00000505958.6:c.463A>G ENSP00000426872.2:p.Lys155Glu
ENST00000509158.6:c.463A>G ENSP00000424804.2:p.Lys155Glu
ENST00000510778.7:c.466A>G ENSP00000427170.3:p.Lys156Glu
ENST00000512671.6:c.505A>G ENSP00000423644.2:p.Lys169Glu
ENST00000515023.6:n.602A>G
ENST00000679469.1:c.*189A>G ENSP00000504953.1:n.*189A>G
ENST00000679698.1:c.*395A>G ENSP00000506331.1:n.*395A>G
ENST00000680140.1:c.463A>G ENSP00000506443.1:p.Lys155Glu
ENST00000680204.1:c.*555A>G ENSP00000506010.1:n.*555A>G
ENST00000680210.1:c.*395A>G ENSP00000505411.1:n.*395A>G
ENST00000680511.1:c.400A>G ENSP00000506628.1:p.Lys134Glu
ENST00000680928.1:c.463A>G ENSP00000505493.1:p.Lys155Glu
ENST00000681025.1:c.*344A>G ENSP00000504979.1:n.*344A>G
ENST00000681093.1:c.463A>G ENSP00000504964.1:p.Lys155Glu
ENST00000681260.1:c.400A>G ENSP00000505479.1:p.Lys134Glu
ENST00000681264.1:c.400A>G ENSP00000505255.1:p.Lys134Glu
ENST00000681403.1:n.714A>G
ENST00000681484.1:c.400A>G ENSP00000505636.1:p.Lys134Glu
ENST00000681506.1:c.*395A>G ENSP00000504925.1:n.*395A>G
ENST00000681679.1:c.463A>G ENSP00000505870.1:p.Lys155Glu
ENST00000681799.1:c.*344A>G ENSP00000504876.1:n.*344A>G
ENST00000681856.1:c.400A>G ENSP00000505922.1:p.Lys134Glu
ENST00000342295.5:c.505A>G ENSP00000345206.1:p.Lys169Glu
ENST00000342320.8:c.463A>G ENSP00000340124.4:p.Lys155Glu
ENST00000345843.7:c.460A>G ENSP00000305815.5:p.Lys154Glu
ENST00000348160.8:c.466A>G ENSP00000339699.4:p.Lys156Glu
ENST00000355476.7:c.463A>G ENSP00000347659.3:p.Lys155Glu
ENST00000361572.10:c.505A>G ENSP00000354528.6:p.Lys169Glu
ENST00000504907.5:c.463A>G ENSP00000423703.1:p.Lys155Glu
ENST00000504938.1:c.400A>G ENSP00000424459.1:p.Lys134Glu
ENST00000506903.1:n.126A>G
ENST00000507561.5:c.400A>G ENSP00000423907.1:p.Lys134Glu
ENST00000507574.5:c.400A>G ENSP00000422617.1:p.Lys134Glu
ENST00000510778.6:c.574A>G ENSP00000427170.2:p.Lys192Glu
ENST00000511451.5:n.599A>G
ENST00000512671.5:c.505A>G ENSP00000423644.1:p.Lys169Glu
ENST00000514380.5:n.537A>G
ENST00000515573.5:c.400A>G ENSP00000423406.1:p.Lys134Glu
NM_005349.3:c.505A>G NP_005340.2:p.Lys169Glu
NM_015874.4:c.466A>G NP_056958.3:p.Lys156Glu
NM_203283.2:c.460A>G NP_976028.1:p.Lys154Glu
NM_203284.2:c.463A>G NP_976029.1:p.Lys155Glu
XM_005248161.2:c.463A>G XP_005248218.1:p.Lys155Glu
XM_006713963.2:c.400A>G XP_006714026.1:p.Lys134Glu
XM_011513840.1:c.463A>G XP_011512142.1:p.Lys155Glu
XM_011513841.1:c.463A>G XP_011512143.1:p.Lys155Glu
NM_001363577.1:c.400A>G NP_001350506.1:p.Lys134Glu
XM_005248161.4:c.463A>G XP_005248218.1:p.Lys155Glu
XM_011513840.3:c.463A>G XP_011512142.1:p.Lys155Glu
XM_017008170.2:c.523A>G XP_016863659.1:p.Lys175Glu
XM_017008171.2:c.508A>G XP_016863660.1:p.Lys170Glu
XM_017008173.2:c.463A>G XP_016863662.1:p.Lys155Glu
XM_017008174.2:c.463A>G XP_016863663.1:p.Lys155Glu
XM_017008175.2:c.463A>G XP_016863664.1:p.Lys155Glu
XM_024454032.1:c.463A>G XP_024309800.1:p.Lys155Glu
NM_001363577.2:c.400A>G NP_001350506.1:p.Lys134Glu
NM_001374400.1:c.505A>G NP_001361329.1:p.Lys169Glu
NM_001374401.1:c.463A>G NP_001361330.1:p.Lys155Glu
NM_001374402.1:c.463A>G NP_001361331.1:p.Lys155Glu
NM_001374403.1:c.463A>G NP_001361332.1:p.Lys155Glu
NM_203283.3:c.460A>G NP_976028.1:p.Lys154Glu
NM_001379406.1:c.463A>G NP_001366335.1:p.Lys155Glu
NM_001379407.1:c.463A>G NP_001366336.1:p.Lys155Glu
NM_001379408.1:c.505A>G NP_001366337.1:p.Lys169Glu
NM_001379409.1:c.460A>G NP_001366338.1:p.Lys154Glu
NM_005349.4:c.505A>G NP_005340.2:p.Lys169Glu
NM_015874.6:c.466A>G MANE Select NP_056958.3:p.Lys156Glu
NM_203283.5:c.400A>G NP_976028.2:p.Lys134Glu
NM_203284.3:c.463A>G NP_976029.1:p.Lys155Glu