Canonical Allele Identifier: CA337560207
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs36044179
gnomAD v3: Y-7070624-A-G
gnomAD v4: Y-7070624-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7070624A>G , CM000686.2:g.7070624A>G GRCh38
NC_000024.9:g.6938665A>G , CM000686.1:g.6938665A>G GRCh37
NC_000024.8:g.6998665A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.591-96A>G MANE Select ENSP00000372499.1:n.591-96A>G
ENST00000346432.3:c.591-96A>G ENSP00000328879.4:n.591-96A>G
ENST00000355162.6:c.591-96A>G ENSP00000347289.2:n.591-96A>G
ENST00000383032.5:c.591-96A>G ENSP00000372499.1:n.591-96A>G
NM_033284.1:c.591-96A>G NP_150600.1:n.591-96A>G
NM_134258.1:c.591-96A>G NP_599020.1:n.591-96A>G
NM_134259.1:c.591-96A>G NP_599021.1:n.591-96A>G
XM_005262572.2:c.633-96A>G XP_005262629.1:n.633-96A>G
XM_005262572.3:c.633-96A>G XP_005262629.1:n.633-96A>G
XM_017030086.1:c.591-96A>G XP_016885575.1:n.591-96A>G
XM_017030087.1:c.591-96A>G XP_016885576.1:n.591-96A>G
XM_024452497.1:c.591-96A>G XP_024308265.1:n.591-96A>G
NM_033284.2:c.591-96A>G MANE Select NP_150600.1:n.591-96A>G
NM_134258.2:c.591-96A>G NP_599020.1:n.591-96A>G
NM_134259.2:c.591-96A>G NP_599021.1:n.591-96A>G