Canonical Allele Identifier: CA10572040
Gene: TBL1Y HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7063916G>T , CM000686.2:g.7063916G>T GRCh38
NC_000024.9:g.6931957G>T , CM000686.1:g.6931957G>T GRCh37
NC_000024.8:g.6991957G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.224G>T MANE Select ENSP00000372499.1:p.Ser75Ile
ENST00000346432.3:c.224G>T ENSP00000328879.4:p.Ser75Ile
ENST00000355162.6:c.224G>T ENSP00000347289.2:p.Ser75Ile
ENST00000383032.5:c.224G>T ENSP00000372499.1:p.Ser75Ile
NM_033284.1:c.224G>T NP_150600.1:p.Ser75Ile
NM_134258.1:c.224G>T NP_599020.1:p.Ser75Ile
NM_134259.1:c.224G>T NP_599021.1:p.Ser75Ile
XM_005262572.2:c.266G>T XP_005262629.1:p.Ser89Ile
XM_005262572.3:c.266G>T XP_005262629.1:p.Ser89Ile
XM_017030086.1:c.224G>T XP_016885575.1:p.Ser75Ile
XM_017030087.1:c.224G>T XP_016885576.1:p.Ser75Ile
XM_024452497.1:c.224G>T XP_024308265.1:p.Ser75Ile
NM_033284.2:c.224G>T MANE Select NP_150600.1:p.Ser75Ile
NM_134258.2:c.224G>T NP_599020.1:p.Ser75Ile
NM_134259.2:c.224G>T NP_599021.1:p.Ser75Ile