Canonical Allele Identifier: CA353094382

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1978108
• ClinVar RCV Id: RCV002774977 ; RCV003348909
• dbSNP Id: rs372987719
• gnomAD v4: 3-52402383-G-A
• MyVariant Identifiers: chr3:g.52436399G>A (hg19) ; chr3:g.52402383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402383G>A , CM000665.2:g.52402383G>A	GRCh38
NC_000003.11:g.52436399G>A , CM000665.1:g.52436399G>A	GRCh37
NC_000003.10:g.52411439G>A	NCBI36
NG_031859.1:g.12611C>T , LRG_529:g.12611C>T
NG_052911.1:g.91065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2095C>T MANE Select	ENSP00000417132.1:p.Arg699Trp
ENST00000296288.9:c.2041C>T	ENSP00000296288.5:p.Arg681Trp
ENST00000460680.5:c.2095C>T	ENSP00000417132.1:p.Arg699Trp
ENST00000466093.1:n.768C>T
ENST00000469613.5:c.294C>T
ENST00000478368.1:c.667C>T	ENSP00000420647.1:p.Arg223Trp
NM_004656.3:c.2095C>T	NP_004647.1:p.Arg699Trp
XM_011534149.1:c.2164C>T	XP_011532451.1:p.Arg722Trp
XM_011534150.1:c.2119C>T	XP_011532452.1:p.Arg707Trp
XM_011534151.1:c.2110C>T	XP_011532453.1:p.Arg704Trp
XM_011534152.1:c.2050C>T	XP_011532454.1:p.Arg684Trp
XM_011534149.3:c.2164C>T	XP_011532451.1:p.Arg722Trp
XM_011534150.3:c.2119C>T	XP_011532452.1:p.Arg707Trp
XM_011534151.3:c.2110C>T	XP_011532453.1:p.Arg704Trp
XM_011534152.2:c.2050C>T	XP_011532454.1:p.Arg684Trp
XM_017007303.2:c.2041C>T	XP_016862792.1:p.Arg681Trp
NM_004656.4:c.2095C>T MANE Select	NP_004647.1:p.Arg699Trp