Canonical Allele Identifier: CA337553751
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs185975114
gnomAD v3: Y-6975110-T-G
gnomAD v4: Y-6975110-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6975110T>G , CM000686.2:g.6975110T>G GRCh38
NC_000024.9:g.6843151T>G , CM000686.1:g.6843151T>G GRCh37
NC_000024.8:g.6903151T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-265-3103T>G MANE Select ENSP00000372499.1:n.-265-3103T>G
ENST00000346432.3:c.-170-3103T>G ENSP00000328879.4:n.-170-3103T>G
ENST00000355162.6:c.-234-20694T>G ENSP00000347289.2:n.-234-20694T>G
ENST00000383032.5:c.-265-3103T>G ENSP00000372499.1:n.-265-3103T>G
NM_033284.1:c.-265-3103T>G NP_150600.1:n.-265-3103T>G
NM_134258.1:c.-234-20694T>G NP_599020.1:n.-234-20694T>G
NM_134259.1:c.-170-3103T>G NP_599021.1:n.-170-3103T>G
XM_017030086.1:c.-265-3103T>G XP_016885575.1:n.-265-3103T>G
XM_017030087.1:c.-265-3103T>G XP_016885576.1:n.-265-3103T>G
XM_024452497.1:c.-265-3103T>G XP_024308265.1:n.-265-3103T>G
NM_033284.2:c.-265-3103T>G MANE Select NP_150600.1:n.-265-3103T>G
NM_134258.2:c.-234-20694T>G NP_599020.1:n.-234-20694T>G
NM_134259.2:c.-170-3103T>G NP_599021.1:n.-170-3103T>G