Canonical Allele Identifier: CA1138868658

Gene: TBL1Y

Linked Data

• gnomAD v3: Y-7003440-A-C
• gnomAD v4: Y-7003440-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7003440A>C , CM000686.2:g.7003440A>C	GRCh38
NC_000024.9:g.6871481A>C , CM000686.1:g.6871481A>C	GRCh37
NC_000024.8:g.6931481A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383032.6:c.-140+7542A>C MANE Select	ENSP00000372499.1:n.-140+7542A>C
ENST00000346432.3:c.-139-18009A>C	ENSP00000328879.4:n.-139-18009A>C
ENST00000355162.6:c.-140+7542A>C	ENSP00000347289.2:n.-140+7542A>C
ENST00000383032.5:c.-140+7542A>C	ENSP00000372499.1:n.-140+7542A>C
NM_033284.1:c.-140+7542A>C	NP_150600.1:n.-140+7542A>C
NM_134258.1:c.-140+7542A>C	NP_599020.1:n.-140+7542A>C
NM_134259.1:c.-139-18009A>C	NP_599021.1:n.-139-18009A>C
XM_017030086.1:c.-140+7542A>C	XP_016885575.1:n.-140+7542A>C
XM_017030087.1:c.-140+7542A>C	XP_016885576.1:n.-140+7542A>C
XM_024452497.1:c.-140+7542A>C	XP_024308265.1:n.-140+7542A>C
NM_033284.2:c.-140+7542A>C MANE Select	NP_150600.1:n.-140+7542A>C
NM_134258.2:c.-140+7542A>C	NP_599020.1:n.-140+7542A>C
NM_134259.2:c.-139-18009A>C	NP_599021.1:n.-139-18009A>C