Canonical Allele Identifier: CA2436764

Gene: BAP1

Linked Data

• ClinVar Variation Id: 485260
• ClinVar RCV Id: RCV000560956 ; RCV000649781
• dbSNP Id: rs779877855
• ExAC: 3:52437518 C / T
• gnomAD v2: 3-52437518-C-T
• gnomAD v3: 3-52403502-C-T
• gnomAD v4: 3-52403502-C-T
• MyVariant Identifiers: chr3:g.52437518C>T (hg19) ; chr3:g.52403502C>T (hg38)
• PubMed: PMID:25363760 ; PMID:28062663

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403502C>T , CM000665.2:g.52403502C>T	GRCh38
NC_000003.11:g.52437518C>T , CM000665.1:g.52437518C>T	GRCh37
NC_000003.10:g.52412558C>T	NCBI36
NG_031859.1:g.11492G>A , LRG_529:g.11492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1643G>A MANE Select	ENSP00000417132.1:p.Arg548His
ENST00000296288.9:c.1589G>A	ENSP00000296288.5:p.Arg530His
ENST00000460680.5:c.1643G>A	ENSP00000417132.1:p.Arg548His
ENST00000466093.1:n.50G>A
ENST00000469613.5:c.119+299G>A
ENST00000478368.1:c.146G>A	ENSP00000420647.1:p.Arg49His
NM_004656.3:c.1643G>A	NP_004647.1:p.Arg548His
XM_011534149.1:c.1643G>A	XP_011532451.1:p.Arg548His
XM_011534150.1:c.1643G>A	XP_011532452.1:p.Arg548His
XM_011534151.1:c.1589G>A	XP_011532453.1:p.Arg530His
XM_011534152.1:c.1643G>A	XP_011532454.1:p.Arg548His
XM_011534149.3:c.1643G>A	XP_011532451.1:p.Arg548His
XM_011534150.3:c.1643G>A	XP_011532452.1:p.Arg548His
XM_011534151.3:c.1589G>A	XP_011532453.1:p.Arg530His
XM_011534152.2:c.1643G>A	XP_011532454.1:p.Arg548His
XM_017007303.2:c.1589G>A	XP_016862792.1:p.Arg530His
NM_004656.4:c.1643G>A MANE Select	NP_004647.1:p.Arg548His