Canonical Allele Identifier: CA353100106

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2774745
• ClinVar RCV Id: RCV003585932
• dbSNP Id: rs779877855
• gnomAD v4: 3-52403502-C-A
• MyVariant Identifiers: chr3:g.52437518C>A (hg19) ; chr3:g.52403502C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1643G>T MANE Select	ENSP00000417132.1:p.Arg548Leu
ENST00000296288.9:c.1589G>T	ENSP00000296288.5:p.Arg530Leu
ENST00000460680.5:c.1643G>T	ENSP00000417132.1:p.Arg548Leu
ENST00000466093.1:n.50G>T
ENST00000469613.5:c.119+299G>T
ENST00000478368.1:c.146G>T	ENSP00000420647.1:p.Arg49Leu
NM_004656.3:c.1643G>T	NP_004647.1:p.Arg548Leu
XM_011534149.1:c.1643G>T	XP_011532451.1:p.Arg548Leu
XM_011534150.1:c.1643G>T	XP_011532452.1:p.Arg548Leu
XM_011534151.1:c.1589G>T	XP_011532453.1:p.Arg530Leu
XM_011534152.1:c.1643G>T	XP_011532454.1:p.Arg548Leu
XM_011534149.3:c.1643G>T	XP_011532451.1:p.Arg548Leu
XM_011534150.3:c.1643G>T	XP_011532452.1:p.Arg548Leu
XM_011534151.3:c.1589G>T	XP_011532453.1:p.Arg530Leu
XM_011534152.2:c.1643G>T	XP_011532454.1:p.Arg548Leu
XM_017007303.2:c.1589G>T	XP_016862792.1:p.Arg530Leu
NM_004656.4:c.1643G>T MANE Select	NP_004647.1:p.Arg548Leu