Canonical Allele Identifier: CA1138864667

Gene: TBL1Y

Linked Data

• dbSNP Id: rs2012365266
• gnomAD v3: Y-6991703-A-C
• gnomAD v4: Y-6991703-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.6991703A>C , CM000686.2:g.6991703A>C	GRCh38
NC_000024.9:g.6859744A>C , CM000686.1:g.6859744A>C	GRCh37
NC_000024.8:g.6919744A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000383032.6:c.-234-4101A>C MANE Select	ENSP00000372499.1:n.-234-4101A>C
ENST00000346432.3:c.-140+13460A>C	ENSP00000328879.4:n.-140+13460A>C
ENST00000355162.6:c.-234-4101A>C	ENSP00000347289.2:n.-234-4101A>C
ENST00000383032.5:c.-234-4101A>C	ENSP00000372499.1:n.-234-4101A>C
NM_033284.1:c.-234-4101A>C	NP_150600.1:n.-234-4101A>C
NM_134258.1:c.-234-4101A>C	NP_599020.1:n.-234-4101A>C
NM_134259.1:c.-140+13460A>C	NP_599021.1:n.-140+13460A>C
XM_017030086.1:c.-234-4101A>C	XP_016885575.1:n.-234-4101A>C
XM_017030087.1:c.-234-4101A>C	XP_016885576.1:n.-234-4101A>C
XM_024452497.1:c.-234-4101A>C	XP_024308265.1:n.-234-4101A>C
NM_033284.2:c.-234-4101A>C MANE Select	NP_150600.1:n.-234-4101A>C
NM_134258.2:c.-234-4101A>C	NP_599020.1:n.-234-4101A>C
NM_134259.2:c.-140+13460A>C	NP_599021.1:n.-140+13460A>C