Canonical Allele Identifier: CA1138859087

Gene: TBL1Y

Linked Data

• dbSNP Id: rs2012228892
• gnomAD v3: Y-6975036-C-T
• gnomAD v4: Y-6975036-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6975036C>T , CM000686.2:g.6975036C>T	GRCh38
NC_000024.9:g.6843077C>T , CM000686.1:g.6843077C>T	GRCh37
NC_000024.8:g.6903077C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000383032.6:c.-265-3177C>T MANE Select	ENSP00000372499.1:n.-265-3177C>T
ENST00000346432.3:c.-170-3177C>T	ENSP00000328879.4:n.-170-3177C>T
ENST00000355162.6:c.-234-20768C>T	ENSP00000347289.2:n.-234-20768C>T
ENST00000383032.5:c.-265-3177C>T	ENSP00000372499.1:n.-265-3177C>T
NM_033284.1:c.-265-3177C>T	NP_150600.1:n.-265-3177C>T
NM_134258.1:c.-234-20768C>T	NP_599020.1:n.-234-20768C>T
NM_134259.1:c.-170-3177C>T	NP_599021.1:n.-170-3177C>T
XM_017030086.1:c.-265-3177C>T	XP_016885575.1:n.-265-3177C>T
XM_017030087.1:c.-265-3177C>T	XP_016885576.1:n.-265-3177C>T
XM_024452497.1:c.-265-3177C>T	XP_024308265.1:n.-265-3177C>T
NM_033284.2:c.-265-3177C>T MANE Select	NP_150600.1:n.-265-3177C>T
NM_134258.2:c.-234-20768C>T	NP_599020.1:n.-234-20768C>T
NM_134259.2:c.-170-3177C>T	NP_599021.1:n.-170-3177C>T