Canonical Allele Identifier: CA414969633
Gene: TBL1Y HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7070752T>C , CM000686.2:g.7070752T>C GRCh38
NC_000024.9:g.6938793T>C , CM000686.1:g.6938793T>C GRCh37
NC_000024.8:g.6998793T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000383032.6:c.623T>C MANE Select ENSP00000372499.1:p.Leu208Pro
ENST00000346432.3:c.623T>C ENSP00000328879.4:p.Leu208Pro
ENST00000355162.6:c.623T>C ENSP00000347289.2:p.Leu208Pro
ENST00000383032.5:c.623T>C ENSP00000372499.1:p.Leu208Pro
NM_033284.1:c.623T>C NP_150600.1:p.Leu208Pro
NM_134258.1:c.623T>C NP_599020.1:p.Leu208Pro
NM_134259.1:c.623T>C NP_599021.1:p.Leu208Pro
XM_005262572.2:c.665T>C XP_005262629.1:p.Leu222Pro
XM_005262572.3:c.665T>C XP_005262629.1:p.Leu222Pro
XM_017030086.1:c.623T>C XP_016885575.1:p.Leu208Pro
XM_017030087.1:c.623T>C XP_016885576.1:p.Leu208Pro
XM_024452497.1:c.623T>C XP_024308265.1:p.Leu208Pro
NM_033284.2:c.623T>C MANE Select NP_150600.1:p.Leu208Pro
NM_134258.2:c.623T>C NP_599020.1:p.Leu208Pro
NM_134259.2:c.623T>C NP_599021.1:p.Leu208Pro