Canonical Allele Identifier: CA16617842
Gene: TBL1XR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421383
ClinVar RCV Id: RCV000480320
dbSNP Id: rs1064795100
MyVariant Identifiers: chr3:g.176751984A>C (hg19) chr3:g.177034196A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.177034196A>C , CM000665.2:g.177034196A>C GRCh38
NC_000003.11:g.176751984A>C , CM000665.1:g.176751984A>C GRCh37
NC_000003.10:g.178234678A>C NCBI36
NG_047195.1:g.168065T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000422066.6:c.1250+2T>G ENSP00000398477.2:n.1250+2T>G
ENST00000431421.6:c.989+2T>G ENSP00000402402.2:n.989+2T>G
ENST00000704383.1:c.1250+2T>G ENSP00000515885.1:n.1250+2T>G
ENST00000704384.1:c.1250+2T>G ENSP00000515886.1:n.1250+2T>G
ENST00000704385.1:c.1250+2T>G ENSP00000515887.1:n.1250+2T>G
ENST00000352800.10:c.1250+2T>G ENSP00000263964.11:n.1250+2T>G
ENST00000422442.6:c.1250+2T>G ENSP00000387849.3:n.1250+2T>G
ENST00000457928.7:c.1250+2T>G MANE Select ENSP00000413251.3:n.1250+2T>G
ENST00000636864.1:n.435+2T>G
ENST00000637659.1:c.1055+2T>G
ENST00000637681.1:n.6+2T>G
ENST00000673974.1:c.1250+2T>G ENSP00000501274.1:n.1250+2T>G
ENST00000430069.5:c.1250+2T>G ENSP00000405574.1:n.1250+2T>G
ENST00000457928.6:c.1250+2T>G ENSP00000413251.2:n.1250+2T>G
ENST00000626758.1:c.33+2T>G
ENST00000631253.2:c.1250+2T>G ENSP00000486324.1:n.1250+2T>G
NM_024665.4:c.1250+2T>G NP_078941.2:n.1250+2T>G
XM_005247771.2:c.1280+2T>G XP_005247828.1:n.1280+2T>G
XM_005247772.1:c.1250+2T>G XP_005247829.1:n.1250+2T>G
XM_005247775.1:c.1250+2T>G XP_005247832.1:n.1250+2T>G
XM_005247776.1:c.989+2T>G XP_005247833.1:n.989+2T>G
XM_006713745.1:c.1250+2T>G XP_006713808.1:n.1250+2T>G
XM_006713746.1:c.1250+2T>G XP_006713809.1:n.1250+2T>G
XM_011513140.1:c.1289+2T>G XP_011511442.1:n.1289+2T>G
XM_011513141.1:c.1250+2T>G XP_011511443.1:n.1250+2T>G
XM_011513142.1:c.1250+2T>G XP_011511444.1:n.1250+2T>G
XM_011513143.1:c.1250+2T>G XP_011511445.1:n.1250+2T>G
NM_001321193.1:c.1250+2T>G NP_001308122.1:n.1250+2T>G
NM_001321194.1:c.1250+2T>G NP_001308123.1:n.1250+2T>G
NM_001321195.1:c.989+2T>G NP_001308124.1:n.989+2T>G
NM_024665.5:c.1250+2T>G NP_078941.2:n.1250+2T>G
XM_005247775.2:c.1250+2T>G XP_005247832.1:n.1250+2T>G
XM_011513142.2:c.1250+2T>G XP_011511444.1:n.1250+2T>G
XM_011513143.2:c.1250+2T>G XP_011511445.1:n.1250+2T>G
XM_017007185.1:c.1250+2T>G XP_016862674.1:n.1250+2T>G
XM_024453751.1:c.1250+2T>G XP_024309519.1:n.1250+2T>G
XM_024453752.1:c.1250+2T>G XP_024309520.1:n.1250+2T>G
NM_001321193.3:c.1250+2T>G NP_001308122.1:n.1250+2T>G
NM_001321194.3:c.1250+2T>G NP_001308123.1:n.1250+2T>G
NM_001321195.3:c.989+2T>G NP_001308124.1:n.989+2T>G
NM_001374327.1:c.1250+2T>G NP_001361256.1:n.1250+2T>G
NM_001374328.1:c.1250+2T>G NP_001361257.1:n.1250+2T>G
NM_001374329.1:c.1250+2T>G NP_001361258.1:n.1250+2T>G
NM_001374330.1:c.989+2T>G NP_001361259.1:n.989+2T>G
NM_024665.7:c.1250+2T>G MANE Select NP_078941.2:n.1250+2T>G
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