Canonical Allele Identifier: CA414969952
Gene: TBL1Y HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7070831T>G , CM000686.2:g.7070831T>G GRCh38
NC_000024.9:g.6938872T>G , CM000686.1:g.6938872T>G GRCh37
NC_000024.8:g.6998872T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.702T>G MANE Select ENSP00000372499.1:p.Ser234Arg
ENST00000346432.3:c.702T>G ENSP00000328879.4:p.Ser234Arg
ENST00000355162.6:c.702T>G ENSP00000347289.2:p.Ser234Arg
ENST00000383032.5:c.702T>G ENSP00000372499.1:p.Ser234Arg
NM_033284.1:c.702T>G NP_150600.1:p.Ser234Arg
NM_134258.1:c.702T>G NP_599020.1:p.Ser234Arg
NM_134259.1:c.702T>G NP_599021.1:p.Ser234Arg
XM_005262572.2:c.744T>G XP_005262629.1:p.Ser248Arg
XM_005262572.3:c.744T>G XP_005262629.1:p.Ser248Arg
XM_017030086.1:c.702T>G XP_016885575.1:p.Ser234Arg
XM_017030087.1:c.702T>G XP_016885576.1:p.Ser234Arg
XM_024452497.1:c.702T>G XP_024308265.1:p.Ser234Arg
NM_033284.2:c.702T>G MANE Select NP_150600.1:p.Ser234Arg
NM_134258.2:c.702T>G NP_599020.1:p.Ser234Arg
NM_134259.2:c.702T>G NP_599021.1:p.Ser234Arg