Canonical Allele Identifier: CA337559655
Gene: TBL1Y HGNC NCBI

Linked Data

dbSNP Id: rs192939307
gnomAD v3: Y-7064790-A-G
gnomAD v4: Y-7064790-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7064790A>G , CM000686.2:g.7064790A>G GRCh38
NC_000024.9:g.6932831A>G , CM000686.1:g.6932831A>G GRCh37
NC_000024.8:g.6992831A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383032.6:c.457+641A>G MANE Select ENSP00000372499.1:n.457+641A>G
ENST00000346432.3:c.457+641A>G ENSP00000328879.4:n.457+641A>G
ENST00000355162.6:c.457+641A>G ENSP00000347289.2:n.457+641A>G
ENST00000383032.5:c.457+641A>G ENSP00000372499.1:n.457+641A>G
NM_033284.1:c.457+641A>G NP_150600.1:n.457+641A>G
NM_134258.1:c.457+641A>G NP_599020.1:n.457+641A>G
NM_134259.1:c.457+641A>G NP_599021.1:n.457+641A>G
XM_005262572.2:c.499+641A>G XP_005262629.1:n.499+641A>G
XM_005262572.3:c.499+641A>G XP_005262629.1:n.499+641A>G
XM_017030086.1:c.457+641A>G XP_016885575.1:n.457+641A>G
XM_017030087.1:c.457+641A>G XP_016885576.1:n.457+641A>G
XM_024452497.1:c.457+641A>G XP_024308265.1:n.457+641A>G
NM_033284.2:c.457+641A>G MANE Select NP_150600.1:n.457+641A>G
NM_134258.2:c.457+641A>G NP_599020.1:n.457+641A>G
NM_134259.2:c.457+641A>G NP_599021.1:n.457+641A>G