Canonical Allele Identifier: CA16611445

Gene: BAP1

Linked Data

• ClinVar Variation Id: 412399
• ClinVar RCV Id: RCV000457289
• dbSNP Id: rs1060503726
• COSMIC: COSM5490691
• MyVariant Identifiers: chr3:g.52441226C>A (hg19) ; chr3:g.52407210C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52407210C>A , CM000665.2:g.52407210C>A	GRCh38
NC_000003.11:g.52441226C>A , CM000665.1:g.52441226C>A	GRCh37
NC_000003.10:g.52416266C>A	NCBI36
NG_031859.1:g.7784G>T , LRG_529:g.7784G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.544G>T MANE Select	ENSP00000417132.1:p.Glu182Ter
ENST00000296288.9:c.544G>T	ENSP00000296288.5:p.Glu182Ter
ENST00000460680.5:c.544G>T	ENSP00000417132.1:p.Glu182Ter
ENST00000470173.1:c.307G>T	ENSP00000417776.1:p.Glu103Ter
ENST00000471532.5:n.259G>T
ENST00000483984.5:n.437+189G>T
ENST00000490917.1:c.*285G>T	ENSP00000419709.1:n.*285G>T
NM_004656.3:c.544G>T	NP_004647.1:p.Glu182Ter
XM_011534149.1:c.544G>T	XP_011532451.1:p.Glu182Ter
XM_011534150.1:c.544G>T	XP_011532452.1:p.Glu182Ter
XM_011534151.1:c.544G>T	XP_011532453.1:p.Glu182Ter
XM_011534152.1:c.544G>T	XP_011532454.1:p.Glu182Ter
XM_011534149.3:c.544G>T	XP_011532451.1:p.Glu182Ter
XM_011534150.3:c.544G>T	XP_011532452.1:p.Glu182Ter
XM_011534151.3:c.544G>T	XP_011532453.1:p.Glu182Ter
XM_011534152.2:c.544G>T	XP_011532454.1:p.Glu182Ter
XM_017007303.2:c.544G>T	XP_016862792.1:p.Glu182Ter
NM_004656.4:c.544G>T MANE Select	NP_004647.1:p.Glu182Ter