Canonical Allele Identifier: CA337555479
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs192830874
gnomAD v3: Y-7008443-G-T
gnomAD v4: Y-7008443-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7008443G>T , CM000686.2:g.7008443G>T GRCh38
NC_000024.9:g.6876484G>T , CM000686.1:g.6876484G>T GRCh37
NC_000024.8:g.6936484G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-140+12545G>T MANE Select ENSP00000372499.1:n.-140+12545G>T
ENST00000346432.3:c.-139-13006G>T ENSP00000328879.4:n.-139-13006G>T
ENST00000355162.6:c.-140+12545G>T ENSP00000347289.2:n.-140+12545G>T
ENST00000383032.5:c.-140+12545G>T ENSP00000372499.1:n.-140+12545G>T
NM_033284.1:c.-140+12545G>T NP_150600.1:n.-140+12545G>T
NM_134258.1:c.-140+12545G>T NP_599020.1:n.-140+12545G>T
NM_134259.1:c.-139-13006G>T NP_599021.1:n.-139-13006G>T
XM_017030086.1:c.-140+12545G>T XP_016885575.1:n.-140+12545G>T
XM_017030087.1:c.-140+12545G>T XP_016885576.1:n.-140+12545G>T
XM_024452497.1:c.-140+12545G>T XP_024308265.1:n.-140+12545G>T
NM_033284.2:c.-140+12545G>T MANE Select NP_150600.1:n.-140+12545G>T
NM_134258.2:c.-140+12545G>T NP_599020.1:n.-140+12545G>T
NM_134259.2:c.-139-13006G>T NP_599021.1:n.-139-13006G>T