Canonical Allele Identifier: CA908132044

Gene: BAP1

Linked Data

• dbSNP Id: rs1275401835
• gnomAD v4: 3-52402529-G-A
• MyVariant Identifiers: chr3:g.52436545G>A (hg19) ; chr3:g.52402529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402529G>A , CM000665.2:g.52402529G>A	GRCh38
NC_000003.11:g.52436545G>A , CM000665.1:g.52436545G>A	GRCh37
NC_000003.10:g.52411585G>A	NCBI36
NG_031859.1:g.12465C>T , LRG_529:g.12465C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.2056+73C>T MANE Select	ENSP00000417132.1:n.2056+73C>T
ENST00000296288.9:c.2002+73C>T	ENSP00000296288.5:n.2002+73C>T
ENST00000460680.5:c.2056+73C>T	ENSP00000417132.1:n.2056+73C>T
ENST00000466093.1:n.729+73C>T
ENST00000469613.5:c.255+73C>T
ENST00000478368.1:c.628+73C>T	ENSP00000420647.1:n.628+73C>T
NM_004656.3:c.2056+73C>T	NP_004647.1:n.2056+73C>T
XM_011534149.1:c.2125+73C>T	XP_011532451.1:n.2125+73C>T
XM_011534150.1:c.2080+73C>T	XP_011532452.1:n.2080+73C>T
XM_011534151.1:c.2071+73C>T	XP_011532453.1:n.2071+73C>T
XM_011534152.1:c.2011+73C>T	XP_011532454.1:n.2011+73C>T
XM_011534149.3:c.2125+73C>T	XP_011532451.1:n.2125+73C>T
XM_011534150.3:c.2080+73C>T	XP_011532452.1:n.2080+73C>T
XM_011534151.3:c.2071+73C>T	XP_011532453.1:n.2071+73C>T
XM_011534152.2:c.2011+73C>T	XP_011532454.1:n.2011+73C>T
XM_017007303.2:c.2002+73C>T	XP_016862792.1:n.2002+73C>T
NM_004656.4:c.2056+73C>T MANE Select	NP_004647.1:n.2056+73C>T