Canonical Allele Identifier: CA414969864
Gene: TBL1Y HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7070794G>C , CM000686.2:g.7070794G>C GRCh38
NC_000024.9:g.6938835G>C , CM000686.1:g.6938835G>C GRCh37
NC_000024.8:g.6998835G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.665G>C MANE Select ENSP00000372499.1:p.Arg222Thr
ENST00000346432.3:c.665G>C ENSP00000328879.4:p.Arg222Thr
ENST00000355162.6:c.665G>C ENSP00000347289.2:p.Arg222Thr
ENST00000383032.5:c.665G>C ENSP00000372499.1:p.Arg222Thr
NM_033284.1:c.665G>C NP_150600.1:p.Arg222Thr
NM_134258.1:c.665G>C NP_599020.1:p.Arg222Thr
NM_134259.1:c.665G>C NP_599021.1:p.Arg222Thr
XM_005262572.2:c.707G>C XP_005262629.1:p.Arg236Thr
XM_005262572.3:c.707G>C XP_005262629.1:p.Arg236Thr
XM_017030086.1:c.665G>C XP_016885575.1:p.Arg222Thr
XM_017030087.1:c.665G>C XP_016885576.1:p.Arg222Thr
XM_024452497.1:c.665G>C XP_024308265.1:p.Arg222Thr
NM_033284.2:c.665G>C MANE Select NP_150600.1:p.Arg222Thr
NM_134258.2:c.665G>C NP_599020.1:p.Arg222Thr
NM_134259.2:c.665G>C NP_599021.1:p.Arg222Thr