Canonical Allele Identifier: CA337554234
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs113726889
gnomAD v3: Y-6985245-C-A
gnomAD v4: Y-6985245-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6985245C>A , CM000686.2:g.6985245C>A GRCh38
NC_000024.9:g.6853286C>A , CM000686.1:g.6853286C>A GRCh37
NC_000024.8:g.6913286C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-235+7002C>A MANE Select ENSP00000372499.1:n.-235+7002C>A
ENST00000346432.3:c.-140+7002C>A ENSP00000328879.4:n.-140+7002C>A
ENST00000355162.6:c.-234-10559C>A ENSP00000347289.2:n.-234-10559C>A
ENST00000383032.5:c.-235+7002C>A ENSP00000372499.1:n.-235+7002C>A
NM_033284.1:c.-235+7002C>A NP_150600.1:n.-235+7002C>A
NM_134258.1:c.-234-10559C>A NP_599020.1:n.-234-10559C>A
NM_134259.1:c.-140+7002C>A NP_599021.1:n.-140+7002C>A
XM_017030086.1:c.-235+7002C>A XP_016885575.1:n.-235+7002C>A
XM_017030087.1:c.-235+7002C>A XP_016885576.1:n.-235+7002C>A
XM_024452497.1:c.-235+7002C>A XP_024308265.1:n.-235+7002C>A
NM_033284.2:c.-235+7002C>A MANE Select NP_150600.1:n.-235+7002C>A
NM_134258.2:c.-234-10559C>A NP_599020.1:n.-234-10559C>A
NM_134259.2:c.-140+7002C>A NP_599021.1:n.-140+7002C>A