Canonical Allele Identifier: CA16617843
Gene: TBL1XR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422143
dbSNP Id: rs1064795585

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.177034322A>G , CM000665.2:g.177034322A>G GRCh38
NC_000003.11:g.176752110A>G , CM000665.1:g.176752110A>G GRCh37
NC_000003.10:g.178234804A>G NCBI36
NG_047195.1:g.167939T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000422066.6:c.1126T>C ENSP00000398477.2:p.Trp376Arg
ENST00000431421.6:c.865T>C ENSP00000402402.2:p.Trp289Arg
ENST00000704383.1:c.1126T>C ENSP00000515885.1:p.Trp376Arg
ENST00000704384.1:c.1126T>C ENSP00000515886.1:p.Trp376Arg
ENST00000704385.1:c.1126T>C ENSP00000515887.1:p.Trp376Arg
ENST00000352800.10:c.1126T>C ENSP00000263964.11:p.Trp376Arg
ENST00000422442.6:c.1126T>C ENSP00000387849.3:p.Trp376Arg
ENST00000457928.7:c.1126T>C MANE Select ENSP00000413251.3:p.Trp376Arg
ENST00000636864.1:n.311T>C
ENST00000637659.1:c.931T>C
ENST00000673974.1:c.1126T>C ENSP00000501274.1:p.Trp376Arg
ENST00000430069.5:c.1126T>C ENSP00000405574.1:p.Trp376Arg
ENST00000457928.6:c.1126T>C ENSP00000413251.2:p.Trp376Arg
ENST00000631253.2:c.1126T>C ENSP00000486324.1:p.Trp376Arg
NM_024665.4:c.1126T>C NP_078941.2:p.Trp376Arg
XM_005247771.2:c.1156T>C XP_005247828.1:p.Trp386Arg
XM_005247772.1:c.1126T>C XP_005247829.1:p.Trp376Arg
XM_005247775.1:c.1126T>C XP_005247832.1:p.Trp376Arg
XM_005247776.1:c.865T>C XP_005247833.1:p.Trp289Arg
XM_006713745.1:c.1126T>C XP_006713808.1:p.Trp376Arg
XM_006713746.1:c.1126T>C XP_006713809.1:p.Trp376Arg
XM_011513140.1:c.1165T>C XP_011511442.1:p.Trp389Arg
XM_011513141.1:c.1126T>C XP_011511443.1:p.Trp376Arg
XM_011513142.1:c.1126T>C XP_011511444.1:p.Trp376Arg
XM_011513143.1:c.1126T>C XP_011511445.1:p.Trp376Arg
NM_001321193.1:c.1126T>C NP_001308122.1:p.Trp376Arg
NM_001321194.1:c.1126T>C NP_001308123.1:p.Trp376Arg
NM_001321195.1:c.865T>C NP_001308124.1:p.Trp289Arg
NM_024665.5:c.1126T>C NP_078941.2:p.Trp376Arg
XM_005247775.2:c.1126T>C XP_005247832.1:p.Trp376Arg
XM_011513142.2:c.1126T>C XP_011511444.1:p.Trp376Arg
XM_011513143.2:c.1126T>C XP_011511445.1:p.Trp376Arg
XM_017007185.1:c.1126T>C XP_016862674.1:p.Trp376Arg
XM_024453751.1:c.1126T>C XP_024309519.1:p.Trp376Arg
XM_024453752.1:c.1126T>C XP_024309520.1:p.Trp376Arg
NM_001321193.3:c.1126T>C NP_001308122.1:p.Trp376Arg
NM_001321194.3:c.1126T>C NP_001308123.1:p.Trp376Arg
NM_001321195.3:c.865T>C NP_001308124.1:p.Trp289Arg
NM_001374327.1:c.1126T>C NP_001361256.1:p.Trp376Arg
NM_001374328.1:c.1126T>C NP_001361257.1:p.Trp376Arg
NM_001374329.1:c.1126T>C NP_001361258.1:p.Trp376Arg
NM_001374330.1:c.865T>C NP_001361259.1:p.Trp289Arg
NM_024665.7:c.1126T>C MANE Select NP_078941.2:p.Trp376Arg