Canonical Allele Identifier: CA412001247

Gene: TBL1X

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.9693381C>T , CM000685.2:g.9693381C>T	GRCh38
NC_000023.10:g.9661421C>T , CM000685.1:g.9661421C>T	GRCh37
NC_000023.9:g.9621421C>T	NCBI36
NG_053005.1:g.235087C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005647.4:c.1015C>T MANE Select	NP_005638.1:p.Arg339Ter
ENST00000645353.2:c.1015C>T MANE Select	ENSP00000496215.1:p.Arg339Ter
NM_001139466.1:c.1015C>T	NP_001132938.1:p.Arg339Ter
NM_001139467.1:c.862C>T	NP_001132939.1:p.Arg288Ter
NM_001139468.1:c.862C>T	NP_001132940.1:p.Arg288Ter
NM_005647.3:c.1015C>T	NP_005638.1:p.Arg339Ter
ENST00000217964.11:c.1015C>T	ENSP00000217964.7:p.Arg339Ter
ENST00000380961.5:c.862C>T	ENSP00000370348.1:p.Arg288Ter
ENST00000407597.6:c.1015C>T	ENSP00000385988.2:p.Arg339Ter
ENST00000407597.7:c.1015C>T	ENSP00000385988.2:p.Arg339Ter
ENST00000424279.5:c.862C>T	ENSP00000394097.1:p.Arg288Ter
ENST00000424279.6:c.862C>T	ENSP00000394097.1:p.Arg288Ter
ENST00000645686.1:c.1015C>T	ENSP00000493782.1:p.Arg339Ter
ENST00000646640.1:c.1015C>T	ENSP00000495556.1:p.Arg339Ter
ENST00000647060.1:c.862C>T	ENSP00000495467.1:p.Arg288Ter
ENST00000683056.1:c.601C>T	ENSP00000507708.1:p.Arg201Ter
ENST00000684110.1:n.1101C>T
XM_011545571.1:c.862C>T	XP_011543873.1:p.Arg288Ter
XM_011545571.3:c.862C>T	XP_011543873.1:p.Arg288Ter