Canonical Allele Identifier: CA337557406
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs11799224
gnomAD v3: Y-7037463-T-G
gnomAD v4: Y-7037463-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7037463T>G , CM000686.2:g.7037463T>G GRCh38
NC_000024.9:g.6905504T>G , CM000686.1:g.6905504T>G GRCh37
NC_000024.8:g.6965504T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.59-5517T>G MANE Select ENSP00000372499.1:n.59-5517T>G
ENST00000346432.3:c.59-5517T>G ENSP00000328879.4:n.59-5517T>G
ENST00000355162.6:c.59-5517T>G ENSP00000347289.2:n.59-5517T>G
ENST00000383032.5:c.59-5517T>G ENSP00000372499.1:n.59-5517T>G
NM_033284.1:c.59-5517T>G NP_150600.1:n.59-5517T>G
NM_134258.1:c.59-5517T>G NP_599020.1:n.59-5517T>G
NM_134259.1:c.59-5517T>G NP_599021.1:n.59-5517T>G
XM_017030086.1:c.59-5517T>G XP_016885575.1:n.59-5517T>G
XM_017030087.1:c.59-5517T>G XP_016885576.1:n.59-5517T>G
XM_024452497.1:c.59-5517T>G XP_024308265.1:n.59-5517T>G
NM_033284.2:c.59-5517T>G MANE Select NP_150600.1:n.59-5517T>G
NM_134258.2:c.59-5517T>G NP_599020.1:n.59-5517T>G
NM_134259.2:c.59-5517T>G NP_599021.1:n.59-5517T>G