Canonical Allele Identifier: CA2437131

Gene: BAP1

Linked Data

• dbSNP Id: rs375129361
• ExAC: 3:52442072 T / A
• gnomAD v2: 3-52442072-T-A
• MyVariant Identifiers: chr3:g.52442072T>A (hg19) ; chr3:g.52408056T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52408056T>A , CM000665.2:g.52408056T>A	GRCh38
NC_000003.11:g.52442072T>A , CM000665.1:g.52442072T>A	GRCh37
NC_000003.10:g.52417112T>A	NCBI36
NG_031859.1:g.6938A>T , LRG_529:g.6938A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.277A>T MANE Select	ENSP00000417132.1:p.Thr93Ser
ENST00000296288.9:c.277A>T	ENSP00000296288.5:p.Thr93Ser
ENST00000460680.5:c.277A>T	ENSP00000417132.1:p.Thr93Ser
ENST00000470173.1:c.40A>T	ENSP00000417776.1:p.Thr14Ser
ENST00000483984.5:n.277A>T
ENST00000490917.1:c.*18A>T	ENSP00000419709.1:n.*18A>T
NM_004656.3:c.277A>T	NP_004647.1:p.Thr93Ser
XM_011534149.1:c.277A>T	XP_011532451.1:p.Thr93Ser
XM_011534150.1:c.277A>T	XP_011532452.1:p.Thr93Ser
XM_011534151.1:c.277A>T	XP_011532453.1:p.Thr93Ser
XM_011534152.1:c.277A>T	XP_011532454.1:p.Thr93Ser
XM_011534149.3:c.277A>T	XP_011532451.1:p.Thr93Ser
XM_011534150.3:c.277A>T	XP_011532452.1:p.Thr93Ser
XM_011534151.3:c.277A>T	XP_011532453.1:p.Thr93Ser
XM_011534152.2:c.277A>T	XP_011532454.1:p.Thr93Ser
XM_017007303.2:c.277A>T	XP_016862792.1:p.Thr93Ser
NM_004656.4:c.277A>T MANE Select	NP_004647.1:p.Thr93Ser