Canonical Allele Identifier: CA1138868652

Gene: TBL1Y

Linked Data

• gnomAD v3: Y-7003430-C-T
• gnomAD v4: Y-7003430-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7003430C>T , CM000686.2:g.7003430C>T	GRCh38
NC_000024.9:g.6871471C>T , CM000686.1:g.6871471C>T	GRCh37
NC_000024.8:g.6931471C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000383032.6:c.-140+7532C>T MANE Select	ENSP00000372499.1:n.-140+7532C>T
ENST00000346432.3:c.-139-18019C>T	ENSP00000328879.4:n.-139-18019C>T
ENST00000355162.6:c.-140+7532C>T	ENSP00000347289.2:n.-140+7532C>T
ENST00000383032.5:c.-140+7532C>T	ENSP00000372499.1:n.-140+7532C>T
NM_033284.1:c.-140+7532C>T	NP_150600.1:n.-140+7532C>T
NM_134258.1:c.-140+7532C>T	NP_599020.1:n.-140+7532C>T
NM_134259.1:c.-139-18019C>T	NP_599021.1:n.-139-18019C>T
XM_017030086.1:c.-140+7532C>T	XP_016885575.1:n.-140+7532C>T
XM_017030087.1:c.-140+7532C>T	XP_016885576.1:n.-140+7532C>T
XM_024452497.1:c.-140+7532C>T	XP_024308265.1:n.-140+7532C>T
NM_033284.2:c.-140+7532C>T MANE Select	NP_150600.1:n.-140+7532C>T
NM_134258.2:c.-140+7532C>T	NP_599020.1:n.-140+7532C>T
NM_134259.2:c.-139-18019C>T	NP_599021.1:n.-139-18019C>T