Canonical Allele Identifier: CA1138859090
Gene: TBL1Y HGNC NCBI

Linked Data

gnomAD v3: Y-6975037-G-A
gnomAD v4: Y-6975037-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6975037G>A , CM000686.2:g.6975037G>A GRCh38
NC_000024.9:g.6843078G>A , CM000686.1:g.6843078G>A GRCh37
NC_000024.8:g.6903078G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-265-3176G>A MANE Select ENSP00000372499.1:n.-265-3176G>A
ENST00000346432.3:c.-170-3176G>A ENSP00000328879.4:n.-170-3176G>A
ENST00000355162.6:c.-234-20767G>A ENSP00000347289.2:n.-234-20767G>A
ENST00000383032.5:c.-265-3176G>A ENSP00000372499.1:n.-265-3176G>A
NM_033284.1:c.-265-3176G>A NP_150600.1:n.-265-3176G>A
NM_134258.1:c.-234-20767G>A NP_599020.1:n.-234-20767G>A
NM_134259.1:c.-170-3176G>A NP_599021.1:n.-170-3176G>A
XM_017030086.1:c.-265-3176G>A XP_016885575.1:n.-265-3176G>A
XM_017030087.1:c.-265-3176G>A XP_016885576.1:n.-265-3176G>A
XM_024452497.1:c.-265-3176G>A XP_024308265.1:n.-265-3176G>A
NM_033284.2:c.-265-3176G>A MANE Select NP_150600.1:n.-265-3176G>A
NM_134258.2:c.-234-20767G>A NP_599020.1:n.-234-20767G>A
NM_134259.2:c.-170-3176G>A NP_599021.1:n.-170-3176G>A
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