Canonical Allele Identifier: CA1138820581
Gene: TBL1Y HGNC NCBI

Linked Data

gnomAD v3: Y-7083984-T-C
gnomAD v4: Y-7083984-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7083984T>C , CM000686.2:g.7083984T>C GRCh38
NC_000024.9:g.6952025T>C , CM000686.1:g.6952025T>C GRCh37
NC_000024.8:g.7012025T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.1078-1914T>C MANE Select ENSP00000372499.1:n.1078-1914T>C
ENST00000346432.3:c.1078-1914T>C ENSP00000328879.4:n.1078-1914T>C
ENST00000355162.6:c.1078-1914T>C ENSP00000347289.2:n.1078-1914T>C
ENST00000383032.5:c.1078-1914T>C ENSP00000372499.1:n.1078-1914T>C
NM_033284.1:c.1078-1914T>C NP_150600.1:n.1078-1914T>C
NM_134258.1:c.1078-1914T>C NP_599020.1:n.1078-1914T>C
NM_134259.1:c.1078-1914T>C NP_599021.1:n.1078-1914T>C
XM_005262572.2:c.1120-1914T>C XP_005262629.1:n.1120-1914T>C
XM_005262572.3:c.1120-1914T>C XP_005262629.1:n.1120-1914T>C
XM_017030086.1:c.1078-1914T>C XP_016885575.1:n.1078-1914T>C
XM_017030087.1:c.1078-1914T>C XP_016885576.1:n.1078-1914T>C
XM_024452497.1:c.1078-1914T>C XP_024308265.1:n.1078-1914T>C
NM_033284.2:c.1078-1914T>C MANE Select NP_150600.1:n.1078-1914T>C
NM_134258.2:c.1078-1914T>C NP_599020.1:n.1078-1914T>C
NM_134259.2:c.1078-1914T>C NP_599021.1:n.1078-1914T>C