Canonical Allele Identifier: CA337553908
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs189205028
gnomAD v3: Y-6977895-T-C
gnomAD v4: Y-6977895-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.6977895T>C , CM000686.2:g.6977895T>C GRCh38
NC_000024.9:g.6845936T>C , CM000686.1:g.6845936T>C GRCh37
NC_000024.8:g.6905936T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.-265-318T>C MANE Select ENSP00000372499.1:n.-265-318T>C
ENST00000346432.3:c.-170-318T>C ENSP00000328879.4:n.-170-318T>C
ENST00000355162.6:c.-234-17909T>C ENSP00000347289.2:n.-234-17909T>C
ENST00000383032.5:c.-265-318T>C ENSP00000372499.1:n.-265-318T>C
NM_033284.1:c.-265-318T>C NP_150600.1:n.-265-318T>C
NM_134258.1:c.-234-17909T>C NP_599020.1:n.-234-17909T>C
NM_134259.1:c.-170-318T>C NP_599021.1:n.-170-318T>C
XM_017030086.1:c.-265-318T>C XP_016885575.1:n.-265-318T>C
XM_017030087.1:c.-265-318T>C XP_016885576.1:n.-265-318T>C
XM_024452497.1:c.-265-318T>C XP_024308265.1:n.-265-318T>C
NM_033284.2:c.-265-318T>C MANE Select NP_150600.1:n.-265-318T>C
NM_134258.2:c.-234-17909T>C NP_599020.1:n.-234-17909T>C
NM_134259.2:c.-170-318T>C NP_599021.1:n.-170-318T>C