Canonical Allele Identifier: CA2469911001
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs2012466062

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7003468T>A , CM000686.2:g.7003468T>A GRCh38
NC_000024.9:g.6871509T>A , CM000686.1:g.6871509T>A GRCh37
NC_000024.8:g.6931509T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.-140+7570T>A MANE Select ENSP00000372499.1:n.-140+7570T>A
ENST00000346432.3:c.-139-17981T>A ENSP00000328879.4:n.-139-17981T>A
ENST00000355162.6:c.-140+7570T>A ENSP00000347289.2:n.-140+7570T>A
ENST00000383032.5:c.-140+7570T>A ENSP00000372499.1:n.-140+7570T>A
NM_033284.1:c.-140+7570T>A NP_150600.1:n.-140+7570T>A
NM_134258.1:c.-140+7570T>A NP_599020.1:n.-140+7570T>A
NM_134259.1:c.-139-17981T>A NP_599021.1:n.-139-17981T>A
XM_017030086.1:c.-140+7570T>A XP_016885575.1:n.-140+7570T>A
XM_017030087.1:c.-140+7570T>A XP_016885576.1:n.-140+7570T>A
XM_024452497.1:c.-140+7570T>A XP_024308265.1:n.-140+7570T>A
NM_033284.2:c.-140+7570T>A MANE Select NP_150600.1:n.-140+7570T>A
NM_134258.2:c.-140+7570T>A NP_599020.1:n.-140+7570T>A
NM_134259.2:c.-139-17981T>A NP_599021.1:n.-139-17981T>A