Canonical Allele Identifier: CA16604489
Gene: TBL1XR1 HGNC NCBI
TBL1XR1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392060
ClinVar RCV Id: RCV000434475
dbSNP Id: rs1057524343

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.177038373C>T , CM000665.2:g.177038373C>T GRCh38
NC_000003.11:g.176756161C>T , CM000665.1:g.176756161C>T GRCh37
NC_000003.10:g.178238855C>T NCBI36
NG_047195.1:g.163888G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000422066.6:c.987G>A (TBL1XR1) ENSP00000398477.2:p.Met329Ile
ENST00000431421.6:c.726G>A (TBL1XR1) ENSP00000402402.2:p.Met242Ile
ENST00000704383.1:c.987G>A (TBL1XR1) ENSP00000515885.1:p.Met329Ile
ENST00000704384.1:c.987G>A (TBL1XR1) ENSP00000515886.1:p.Met329Ile
ENST00000704385.1:c.987G>A (TBL1XR1) ENSP00000515887.1:p.Met329Ile
ENST00000352800.10:c.987G>A (TBL1XR1) ENSP00000263964.11:p.Met329Ile
ENST00000422442.6:c.987G>A (TBL1XR1) ENSP00000387849.3:p.Met329Ile
ENST00000457928.7:c.987G>A (TBL1XR1) MANE Select ENSP00000413251.3:p.Met329Ile
ENST00000636864.1:n.172G>A (TBL1XR1)
ENST00000637659.1:c.586G>A (TBL1XR1)
ENST00000673974.1:c.987G>A (TBL1XR1) ENSP00000501274.1:p.Met329Ile
ENST00000430069.5:c.987G>A (TBL1XR1) ENSP00000405574.1:p.Met329Ile
ENST00000457928.6:c.987G>A (TBL1XR1) ENSP00000413251.2:p.Met329Ile
ENST00000631253.2:c.987G>A (TBL1XR1) ENSP00000486324.1:p.Met329Ile
NM_024665.4:c.987G>A (TBL1XR1) NP_078941.2:p.Met329Ile
XM_005247771.2:c.1017G>A (TBL1XR1) XP_005247828.1:p.Met339Ile
XM_005247772.1:c.987G>A (TBL1XR1) XP_005247829.1:p.Met329Ile
XM_005247775.1:c.987G>A (TBL1XR1) XP_005247832.1:p.Met329Ile
XM_005247776.1:c.726G>A (TBL1XR1) XP_005247833.1:p.Met242Ile
XM_006713745.1:c.987G>A (TBL1XR1) XP_006713808.1:p.Met329Ile
XM_006713746.1:c.987G>A (TBL1XR1) XP_006713809.1:p.Met329Ile
XM_011513140.1:c.1026G>A (TBL1XR1) XP_011511442.1:p.Met342Ile
XM_011513141.1:c.987G>A (TBL1XR1) XP_011511443.1:p.Met329Ile
XM_011513142.1:c.987G>A (TBL1XR1) XP_011511444.1:p.Met329Ile
XM_011513143.1:c.987G>A (TBL1XR1) XP_011511445.1:p.Met329Ile
NM_001321193.1:c.987G>A (TBL1XR1) NP_001308122.1:p.Met329Ile
NM_001321194.1:c.987G>A (TBL1XR1) NP_001308123.1:p.Met329Ile
NM_001321195.1:c.726G>A (TBL1XR1) NP_001308124.1:p.Met242Ile
NM_024665.5:c.987G>A (TBL1XR1) NP_078941.2:p.Met329Ile
XM_005247775.2:c.987G>A (TBL1XR1) XP_005247832.1:p.Met329Ile
XM_011513142.2:c.987G>A (TBL1XR1) XP_011511444.1:p.Met329Ile
XM_011513143.2:c.987G>A (TBL1XR1) XP_011511445.1:p.Met329Ile
XM_017007185.1:c.987G>A (TBL1XR1) XP_016862674.1:p.Met329Ile
XM_024453751.1:c.987G>A (TBL1XR1) XP_024309519.1:p.Met329Ile
XM_024453752.1:c.987G>A (TBL1XR1) XP_024309520.1:p.Met329Ile
NM_001321193.3:c.987G>A (TBL1XR1) NP_001308122.1:p.Met329Ile
NM_001321194.3:c.987G>A (TBL1XR1) NP_001308123.1:p.Met329Ile
NM_001321195.3:c.726G>A (TBL1XR1) NP_001308124.1:p.Met242Ile
NM_001374327.1:c.987G>A (TBL1XR1) NP_001361256.1:p.Met329Ile
NM_001374328.1:c.987G>A (TBL1XR1) NP_001361257.1:p.Met329Ile
NM_001374329.1:c.987G>A (TBL1XR1) NP_001361258.1:p.Met329Ile
NM_001374330.1:c.726G>A (TBL1XR1) NP_001361259.1:p.Met242Ile
NM_024665.7:c.987G>A (TBL1XR1) MANE Select NP_078941.2:p.Met329Ile
NR_174966.1:n.352C>T (TBL1XR1-AS1)