Canonical Allele Identifier: CA2469906447
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs1603024967
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6920164G>C , CM000686.2:g.6920164G>C GRCh38
NC_000024.9:g.6788205G>C , CM000686.1:g.6788205G>C GRCh37
NC_000024.8:g.6848205G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-266+7992G>C MANE Select ENSP00000372499.1:n.-266+7992G>C
ENST00000346432.3:c.-171+7992G>C ENSP00000328879.4:n.-171+7992G>C
ENST00000355162.6:c.-235+7992G>C ENSP00000347289.2:n.-235+7992G>C
ENST00000383032.5:c.-266+7992G>C ENSP00000372499.1:n.-266+7992G>C
NM_033284.1:c.-266+7992G>C NP_150600.1:n.-266+7992G>C
NM_134258.1:c.-235+7992G>C NP_599020.1:n.-235+7992G>C
NM_134259.1:c.-171+7992G>C NP_599021.1:n.-171+7992G>C
XM_017030086.1:c.-266+7992G>C XP_016885575.1:n.-266+7992G>C
XM_017030087.1:c.-266+7992G>C XP_016885576.1:n.-266+7992G>C
XM_024452497.1:c.-266+7992G>C XP_024308265.1:n.-266+7992G>C
NM_033284.2:c.-266+7992G>C MANE Select NP_150600.1:n.-266+7992G>C
NM_134258.2:c.-235+7992G>C NP_599020.1:n.-235+7992G>C
NM_134259.2:c.-171+7992G>C NP_599021.1:n.-171+7992G>C
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