Canonical Allele Identifier: CA337573563
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs13303711
gnomAD v3: Y-7083982-C-T
gnomAD v4: Y-7083982-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7083982C>T , CM000686.2:g.7083982C>T GRCh38
NC_000024.9:g.6952023C>T , CM000686.1:g.6952023C>T GRCh37
NC_000024.8:g.7012023C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.1078-1916C>T MANE Select ENSP00000372499.1:n.1078-1916C>T
ENST00000346432.3:c.1078-1916C>T ENSP00000328879.4:n.1078-1916C>T
ENST00000355162.6:c.1078-1916C>T ENSP00000347289.2:n.1078-1916C>T
ENST00000383032.5:c.1078-1916C>T ENSP00000372499.1:n.1078-1916C>T
NM_033284.1:c.1078-1916C>T NP_150600.1:n.1078-1916C>T
NM_134258.1:c.1078-1916C>T NP_599020.1:n.1078-1916C>T
NM_134259.1:c.1078-1916C>T NP_599021.1:n.1078-1916C>T
XM_005262572.2:c.1120-1916C>T XP_005262629.1:n.1120-1916C>T
XM_005262572.3:c.1120-1916C>T XP_005262629.1:n.1120-1916C>T
XM_017030086.1:c.1078-1916C>T XP_016885575.1:n.1078-1916C>T
XM_017030087.1:c.1078-1916C>T XP_016885576.1:n.1078-1916C>T
XM_024452497.1:c.1078-1916C>T XP_024308265.1:n.1078-1916C>T
NM_033284.2:c.1078-1916C>T MANE Select NP_150600.1:n.1078-1916C>T
NM_134258.2:c.1078-1916C>T NP_599020.1:n.1078-1916C>T
NM_134259.2:c.1078-1916C>T NP_599021.1:n.1078-1916C>T