Canonical Allele Identifier: CA337554584
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs9786374
gnomAD v3: Y-6993034-G-A
gnomAD v4: Y-6993034-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6993034G>A , CM000686.2:g.6993034G>A GRCh38
NC_000024.9:g.6861075G>A , CM000686.1:g.6861075G>A GRCh37
NC_000024.8:g.6921075G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-234-2770G>A MANE Select ENSP00000372499.1:n.-234-2770G>A
ENST00000346432.3:c.-140+14791G>A ENSP00000328879.4:n.-140+14791G>A
ENST00000355162.6:c.-234-2770G>A ENSP00000347289.2:n.-234-2770G>A
ENST00000383032.5:c.-234-2770G>A ENSP00000372499.1:n.-234-2770G>A
NM_033284.1:c.-234-2770G>A NP_150600.1:n.-234-2770G>A
NM_134258.1:c.-234-2770G>A NP_599020.1:n.-234-2770G>A
NM_134259.1:c.-140+14791G>A NP_599021.1:n.-140+14791G>A
XM_017030086.1:c.-234-2770G>A XP_016885575.1:n.-234-2770G>A
XM_017030087.1:c.-234-2770G>A XP_016885576.1:n.-234-2770G>A
XM_024452497.1:c.-234-2770G>A XP_024308265.1:n.-234-2770G>A
NM_033284.2:c.-234-2770G>A MANE Select NP_150600.1:n.-234-2770G>A
NM_134258.2:c.-234-2770G>A NP_599020.1:n.-234-2770G>A
NM_134259.2:c.-140+14791G>A NP_599021.1:n.-140+14791G>A