Canonical Allele Identifier: CA2666006801

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226135
• gnomAD v4: 3-52402511-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402511G>A , CM000665.2:g.52402511G>A	GRCh38
NC_000003.11:g.52436527G>A , CM000665.1:g.52436527G>A	GRCh37
NC_000003.10:g.52411567G>A	NCBI36
NG_031859.1:g.12483C>T , LRG_529:g.12483C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.2057-90C>T MANE Select	ENSP00000417132.1:n.2057-90C>T
ENST00000296288.9:c.2003-90C>T	ENSP00000296288.5:n.2003-90C>T
ENST00000460680.5:c.2057-90C>T	ENSP00000417132.1:n.2057-90C>T
ENST00000466093.1:n.730-90C>T
ENST00000469613.5:c.256-90C>T
ENST00000478368.1:c.629-90C>T	ENSP00000420647.1:n.629-90C>T
NM_004656.3:c.2057-90C>T	NP_004647.1:n.2057-90C>T
XM_011534149.1:c.2126-90C>T	XP_011532451.1:n.2126-90C>T
XM_011534150.1:c.2081-90C>T	XP_011532452.1:n.2081-90C>T
XM_011534151.1:c.2072-90C>T	XP_011532453.1:n.2072-90C>T
XM_011534152.1:c.2012-90C>T	XP_011532454.1:n.2012-90C>T
XM_011534149.3:c.2126-90C>T	XP_011532451.1:n.2126-90C>T
XM_011534150.3:c.2081-90C>T	XP_011532452.1:n.2081-90C>T
XM_011534151.3:c.2072-90C>T	XP_011532453.1:n.2072-90C>T
XM_011534152.2:c.2012-90C>T	XP_011532454.1:n.2012-90C>T
XM_017007303.2:c.2003-90C>T	XP_016862792.1:n.2003-90C>T
NM_004656.4:c.2057-90C>T MANE Select	NP_004647.1:n.2057-90C>T