Canonical Allele Identifier: CA337556062
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs112261955
gnomAD v3: Y-7019121-C-T
gnomAD v4: Y-7019121-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7019121C>T , CM000686.2:g.7019121C>T GRCh38
NC_000024.9:g.6887162C>T , CM000686.1:g.6887162C>T GRCh37
NC_000024.8:g.6947162C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-139-2328C>T MANE Select ENSP00000372499.1:n.-139-2328C>T
ENST00000346432.3:c.-139-2328C>T ENSP00000328879.4:n.-139-2328C>T
ENST00000355162.6:c.-139-2328C>T ENSP00000347289.2:n.-139-2328C>T
ENST00000383032.5:c.-139-2328C>T ENSP00000372499.1:n.-139-2328C>T
NM_033284.1:c.-139-2328C>T NP_150600.1:n.-139-2328C>T
NM_134258.1:c.-139-2328C>T NP_599020.1:n.-139-2328C>T
NM_134259.1:c.-139-2328C>T NP_599021.1:n.-139-2328C>T
XM_017030086.1:c.-139-2328C>T XP_016885575.1:n.-139-2328C>T
XM_017030087.1:c.-139-2328C>T XP_016885576.1:n.-139-2328C>T
XM_024452497.1:c.-139-2328C>T XP_024308265.1:n.-139-2328C>T
NM_033284.2:c.-139-2328C>T MANE Select NP_150600.1:n.-139-2328C>T
NM_134258.2:c.-139-2328C>T NP_599020.1:n.-139-2328C>T
NM_134259.2:c.-139-2328C>T NP_599021.1:n.-139-2328C>T