Canonical Allele Identifier: CA411988078
Community Standard Title: NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys)
Gene: TBL1X HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.9711697A>G , CM000685.2:g.9711697A>G GRCh38
NC_000023.10:g.9679737A>G , CM000685.1:g.9679737A>G GRCh37
NC_000023.9:g.9639737A>G NCBI36
NG_053005.1:g.253403A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005647.4:c.1526A>G MANE Select NP_005638.1:p.Tyr509Cys
ENST00000645353.2:c.1526A>G MANE Select ENSP00000496215.1:p.Tyr509Cys
NM_001139466.1:c.1526A>G NP_001132938.1:p.Tyr509Cys
NM_001139467.1:c.1373A>G NP_001132939.1:p.Tyr458Cys
NM_001139468.1:c.1373A>G NP_001132940.1:p.Tyr458Cys
NM_005647.3:c.1526A>G NP_005638.1:p.Tyr509Cys
ENST00000217964.11:c.1526A>G ENSP00000217964.7:p.Tyr509Cys
ENST00000380961.5:c.1373A>G ENSP00000370348.1:p.Tyr458Cys
ENST00000407597.6:c.1526A>G ENSP00000385988.2:p.Tyr509Cys
ENST00000407597.7:c.1526A>G ENSP00000385988.2:p.Tyr509Cys
ENST00000424279.5:c.1373A>G ENSP00000394097.1:p.Tyr458Cys
ENST00000424279.6:c.1373A>G ENSP00000394097.1:p.Tyr458Cys
ENST00000645686.1:c.1526A>G ENSP00000493782.1:p.Tyr509Cys
ENST00000646640.1:c.1526A>G ENSP00000495556.1:p.Tyr509Cys
ENST00000647060.1:c.1373A>G ENSP00000495467.1:p.Tyr458Cys
ENST00000683056.1:c.1112A>G ENSP00000507708.1:p.Tyr371Cys
ENST00000684110.1:n.1612A>G
XM_011545571.1:c.1373A>G XP_011543873.1:p.Tyr458Cys
XM_011545571.3:c.1373A>G XP_011543873.1:p.Tyr458Cys