Canonical Allele Identifier: CA16042462
Gene: TBL1XR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372904
ClinVar RCV Id: RCV000413119
dbSNP Id: rs1057518063

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.177051683A>T , CM000665.2:g.177051683A>T GRCh38
NC_000003.11:g.176769471A>T , CM000665.1:g.176769471A>T GRCh37
NC_000003.10:g.178252165A>T NCBI36
NG_047195.1:g.150578T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000422066.6:c.248T>A ENSP00000398477.2:p.Leu83Gln
ENST00000431421.6:c.-14T>A ENSP00000402402.2:n.-14T>A
ENST00000704383.1:c.248T>A ENSP00000515885.1:p.Leu83Gln
ENST00000704384.1:c.248T>A ENSP00000515886.1:p.Leu83Gln
ENST00000704385.1:c.248T>A ENSP00000515887.1:p.Leu83Gln
ENST00000352800.10:c.248T>A ENSP00000263964.11:p.Leu83Gln
ENST00000422442.6:c.248T>A ENSP00000387849.3:p.Leu83Gln
ENST00000457928.7:c.248T>A MANE Select ENSP00000413251.3:p.Leu83Gln
ENST00000635794.1:c.248T>A ENSP00000490246.1:p.Leu83Gln
ENST00000673974.1:c.248T>A ENSP00000501274.1:p.Leu83Gln
ENST00000352800.9:c.248T>A ENSP00000263964.10:p.Leu83Gln
ENST00000422066.5:c.248T>A ENSP00000398477.1:p.Leu83Gln
ENST00000424913.5:c.-14T>A ENSP00000404863.1:n.-14T>A
ENST00000428970.5:c.-14T>A ENSP00000391559.1:n.-14T>A
ENST00000430069.5:c.248T>A ENSP00000405574.1:p.Leu83Gln
ENST00000431421.5:c.-14T>A ENSP00000402402.1:n.-14T>A
ENST00000431674.5:c.248T>A ENSP00000397450.1:p.Leu83Gln
ENST00000437738.5:c.248T>A ENSP00000392180.2:p.Leu83Gln
ENST00000450267.5:c.248T>A ENSP00000406297.1:p.Leu83Gln
ENST00000457928.6:c.248T>A ENSP00000413251.2:p.Leu83Gln
ENST00000626672.2:c.248T>A ENSP00000486866.1:p.Leu83Gln
ENST00000630796.2:c.239T>A ENSP00000486235.1:p.Leu80Gln
ENST00000630833.2:c.248T>A ENSP00000486082.1:p.Leu83Gln
ENST00000631253.2:c.248T>A ENSP00000486324.1:p.Leu83Gln
NM_024665.4:c.248T>A NP_078941.2:p.Leu83Gln
XM_005247771.2:c.278T>A XP_005247828.1:p.Leu93Gln
XM_005247772.1:c.248T>A XP_005247829.1:p.Leu83Gln
XM_005247775.1:c.248T>A XP_005247832.1:p.Leu83Gln
XM_005247776.1:c.-14T>A XP_005247833.1:n.-14T>A
XM_006713745.1:c.248T>A XP_006713808.1:p.Leu83Gln
XM_006713746.1:c.248T>A XP_006713809.1:p.Leu83Gln
XM_011513140.1:c.287T>A XP_011511442.1:p.Leu96Gln
XM_011513141.1:c.248T>A XP_011511443.1:p.Leu83Gln
XM_011513142.1:c.248T>A XP_011511444.1:p.Leu83Gln
XM_011513143.1:c.248T>A XP_011511445.1:p.Leu83Gln
NM_001321193.1:c.248T>A NP_001308122.1:p.Leu83Gln
NM_001321194.1:c.248T>A NP_001308123.1:p.Leu83Gln
NM_001321195.1:c.-14T>A NP_001308124.1:n.-14T>A
NM_024665.5:c.248T>A NP_078941.2:p.Leu83Gln
XM_005247775.2:c.248T>A XP_005247832.1:p.Leu83Gln
XM_011513142.2:c.248T>A XP_011511444.1:p.Leu83Gln
XM_011513143.2:c.248T>A XP_011511445.1:p.Leu83Gln
XM_017007185.1:c.248T>A XP_016862674.1:p.Leu83Gln
XM_024453751.1:c.248T>A XP_024309519.1:p.Leu83Gln
XM_024453752.1:c.248T>A XP_024309520.1:p.Leu83Gln
NM_001321193.3:c.248T>A NP_001308122.1:p.Leu83Gln
NM_001321194.3:c.248T>A NP_001308123.1:p.Leu83Gln
NM_001321195.3:c.-14T>A NP_001308124.1:n.-14T>A
NM_001374327.1:c.248T>A NP_001361256.1:p.Leu83Gln
NM_001374328.1:c.248T>A NP_001361257.1:p.Leu83Gln
NM_001374329.1:c.248T>A NP_001361258.1:p.Leu83Gln
NM_001374330.1:c.-14T>A NP_001361259.1:n.-14T>A
NM_024665.7:c.248T>A MANE Select NP_078941.2:p.Leu83Gln