Canonical Allele Identifier: CA353094355

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1316381
• ClinVar RCV Id: RCV001766287 ; RCV003528331 ; RCV004040693
• dbSNP Id: rs1704985467
• gnomAD v4: 3-52402376-C-T
• MyVariant Identifiers: chr3:g.52436392C>T (hg19) ; chr3:g.52402376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402376C>T , CM000665.2:g.52402376C>T	GRCh38
NC_000003.11:g.52436392C>T , CM000665.1:g.52436392C>T	GRCh37
NC_000003.10:g.52411432C>T	NCBI36
NG_031859.1:g.12618G>A , LRG_529:g.12618G>A
NG_052911.1:g.91058C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2102G>A MANE Select	ENSP00000417132.1:p.Arg701His
ENST00000296288.9:c.2048G>A	ENSP00000296288.5:p.Arg683His
ENST00000460680.5:c.2102G>A	ENSP00000417132.1:p.Arg701His
ENST00000466093.1:n.775G>A
ENST00000469613.5:c.301G>A
ENST00000478368.1:c.674G>A	ENSP00000420647.1:p.Arg225His
NM_004656.3:c.2102G>A	NP_004647.1:p.Arg701His
XM_011534149.1:c.2171G>A	XP_011532451.1:p.Arg724His
XM_011534150.1:c.2126G>A	XP_011532452.1:p.Arg709His
XM_011534151.1:c.2117G>A	XP_011532453.1:p.Arg706His
XM_011534152.1:c.2057G>A	XP_011532454.1:p.Arg686His
XM_011534149.3:c.2171G>A	XP_011532451.1:p.Arg724His
XM_011534150.3:c.2126G>A	XP_011532452.1:p.Arg709His
XM_011534151.3:c.2117G>A	XP_011532453.1:p.Arg706His
XM_011534152.2:c.2057G>A	XP_011532454.1:p.Arg686His
XM_017007303.2:c.2048G>A	XP_016862792.1:p.Arg683His
NM_004656.4:c.2102G>A MANE Select	NP_004647.1:p.Arg701His