Canonical Allele Identifier: CA411985750

Gene: TBL1X

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.9709260G>A , CM000685.2:g.9709260G>A	GRCh38
NC_000023.10:g.9677300G>A , CM000685.1:g.9677300G>A	GRCh37
NC_000023.9:g.9637300G>A	NCBI36
NG_053005.1:g.250966G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005647.4:c.1249G>A MANE Select	NP_005638.1:p.Ala417Thr
ENST00000645353.2:c.1249G>A MANE Select	ENSP00000496215.1:p.Ala417Thr
NM_001139466.1:c.1249G>A	NP_001132938.1:p.Ala417Thr
NM_001139467.1:c.1096G>A	NP_001132939.1:p.Ala366Thr
NM_001139468.1:c.1096G>A	NP_001132940.1:p.Ala366Thr
NM_005647.3:c.1249G>A	NP_005638.1:p.Ala417Thr
ENST00000217964.11:c.1249G>A	ENSP00000217964.7:p.Ala417Thr
ENST00000380961.5:c.1096G>A	ENSP00000370348.1:p.Ala366Thr
ENST00000407597.6:c.1249G>A	ENSP00000385988.2:p.Ala417Thr
ENST00000407597.7:c.1249G>A	ENSP00000385988.2:p.Ala417Thr
ENST00000424279.5:c.1096G>A	ENSP00000394097.1:p.Ala366Thr
ENST00000424279.6:c.1096G>A	ENSP00000394097.1:p.Ala366Thr
ENST00000645686.1:c.1249G>A	ENSP00000493782.1:p.Ala417Thr
ENST00000646640.1:c.1249G>A	ENSP00000495556.1:p.Ala417Thr
ENST00000647060.1:c.1096G>A	ENSP00000495467.1:p.Ala366Thr
ENST00000683056.1:c.835G>A	ENSP00000507708.1:p.Ala279Thr
ENST00000684110.1:n.1335G>A
XM_011545571.1:c.1096G>A	XP_011543873.1:p.Ala366Thr
XM_011545571.3:c.1096G>A	XP_011543873.1:p.Ala366Thr