Canonical Allele Identifier: CA543056468

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2884424
• ClinVar RCV Id: RCV003642468
• dbSNP Id: rs1232391411
• gnomAD v2: 3-52436456-C-T
• gnomAD v4: 3-52402440-C-T
• MyVariant Identifiers: chr3:g.52436456C>T (hg19) ; chr3:g.52402440C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402440C>T , CM000665.2:g.52402440C>T	GRCh38
NC_000003.11:g.52436456C>T , CM000665.1:g.52436456C>T	GRCh37
NC_000003.10:g.52411496C>T	NCBI36
NG_031859.1:g.12554G>A , LRG_529:g.12554G>A
NG_052911.1:g.91122C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.2057-19G>A MANE Select	ENSP00000417132.1:n.2057-19G>A
ENST00000296288.9:c.2003-19G>A	ENSP00000296288.5:n.2003-19G>A
ENST00000460680.5:c.2057-19G>A	ENSP00000417132.1:n.2057-19G>A
ENST00000466093.1:n.730-19G>A
ENST00000469613.5:c.256-19G>A
ENST00000478368.1:c.629-19G>A	ENSP00000420647.1:n.629-19G>A
NM_004656.3:c.2057-19G>A	NP_004647.1:n.2057-19G>A
XM_011534149.1:c.2126-19G>A	XP_011532451.1:n.2126-19G>A
XM_011534150.1:c.2081-19G>A	XP_011532452.1:n.2081-19G>A
XM_011534151.1:c.2072-19G>A	XP_011532453.1:n.2072-19G>A
XM_011534152.1:c.2012-19G>A	XP_011532454.1:n.2012-19G>A
XM_011534149.3:c.2126-19G>A	XP_011532451.1:n.2126-19G>A
XM_011534150.3:c.2081-19G>A	XP_011532452.1:n.2081-19G>A
XM_011534151.3:c.2072-19G>A	XP_011532453.1:n.2072-19G>A
XM_011534152.2:c.2012-19G>A	XP_011532454.1:n.2012-19G>A
XM_017007303.2:c.2003-19G>A	XP_016862792.1:n.2003-19G>A
NM_004656.4:c.2057-19G>A MANE Select	NP_004647.1:n.2057-19G>A