Canonical Allele Identifier: CA519497746

Gene: TBL1Y

Linked Data

• dbSNP Id: rs1194396514
• gnomAD v2: Y-6938884-C-T
• MyVariant Identifiers: chrY:g.6938884C>T (hg19) ; chrY:g.7070843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7070843C>T , CM000686.2:g.7070843C>T	GRCh38
NC_000024.9:g.6938884C>T , CM000686.1:g.6938884C>T	GRCh37
NC_000024.8:g.6998884C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383032.6:c.714C>T MANE Select	ENSP00000372499.1:p.Val238=
ENST00000346432.3:c.714C>T	ENSP00000328879.4:p.Val238=
ENST00000355162.6:c.714C>T	ENSP00000347289.2:p.Val238=
ENST00000383032.5:c.714C>T	ENSP00000372499.1:p.Val238=
NM_033284.1:c.714C>T	NP_150600.1:p.Val238=
NM_134258.1:c.714C>T	NP_599020.1:p.Val238=
NM_134259.1:c.714C>T	NP_599021.1:p.Val238=
XM_005262572.2:c.756C>T	XP_005262629.1:p.Val252=
XM_005262572.3:c.756C>T	XP_005262629.1:p.Val252=
XM_017030086.1:c.714C>T	XP_016885575.1:p.Val238=
XM_017030087.1:c.714C>T	XP_016885576.1:p.Val238=
XM_024452497.1:c.714C>T	XP_024308265.1:p.Val238=
NM_033284.2:c.714C>T MANE Select	NP_150600.1:p.Val238=
NM_134258.2:c.714C>T	NP_599020.1:p.Val238=
NM_134259.2:c.714C>T	NP_599021.1:p.Val238=