Canonical Allele Identifier: CA1138887436

Gene: TBL1Y

Linked Data

• gnomAD v3: Y-7064764-G-C
• gnomAD v4: Y-7064764-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7064764G>C , CM000686.2:g.7064764G>C	GRCh38
NC_000024.9:g.6932805G>C , CM000686.1:g.6932805G>C	GRCh37
NC_000024.8:g.6992805G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000383032.6:c.457+615G>C MANE Select	ENSP00000372499.1:n.457+615G>C
ENST00000346432.3:c.457+615G>C	ENSP00000328879.4:n.457+615G>C
ENST00000355162.6:c.457+615G>C	ENSP00000347289.2:n.457+615G>C
ENST00000383032.5:c.457+615G>C	ENSP00000372499.1:n.457+615G>C
NM_033284.1:c.457+615G>C	NP_150600.1:n.457+615G>C
NM_134258.1:c.457+615G>C	NP_599020.1:n.457+615G>C
NM_134259.1:c.457+615G>C	NP_599021.1:n.457+615G>C
XM_005262572.2:c.499+615G>C	XP_005262629.1:n.499+615G>C
XM_005262572.3:c.499+615G>C	XP_005262629.1:n.499+615G>C
XM_017030086.1:c.457+615G>C	XP_016885575.1:n.457+615G>C
XM_017030087.1:c.457+615G>C	XP_016885576.1:n.457+615G>C
XM_024452497.1:c.457+615G>C	XP_024308265.1:n.457+615G>C
NM_033284.2:c.457+615G>C MANE Select	NP_150600.1:n.457+615G>C
NM_134258.2:c.457+615G>C	NP_599020.1:n.457+615G>C
NM_134259.2:c.457+615G>C	NP_599021.1:n.457+615G>C