Canonical Allele Identifier: CA1047968463

Gene: BAP1

Linked Data

• dbSNP Id: rs1704993977
• gnomAD v3: 3-52402518-C-T
• gnomAD v4: 3-52402518-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402518C>T , CM000665.2:g.52402518C>T	GRCh38
NC_000003.11:g.52436534C>T , CM000665.1:g.52436534C>T	GRCh37
NC_000003.10:g.52411574C>T	NCBI36
NG_031859.1:g.12476G>A , LRG_529:g.12476G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.2056+84G>A MANE Select	ENSP00000417132.1:n.2056+84G>A
ENST00000296288.9:c.2002+84G>A	ENSP00000296288.5:n.2002+84G>A
ENST00000460680.5:c.2056+84G>A	ENSP00000417132.1:n.2056+84G>A
ENST00000466093.1:n.729+84G>A
ENST00000469613.5:c.255+84G>A
ENST00000478368.1:c.628+84G>A	ENSP00000420647.1:n.628+84G>A
NM_004656.3:c.2056+84G>A	NP_004647.1:n.2056+84G>A
XM_011534149.1:c.2125+84G>A	XP_011532451.1:n.2125+84G>A
XM_011534150.1:c.2080+84G>A	XP_011532452.1:n.2080+84G>A
XM_011534151.1:c.2071+84G>A	XP_011532453.1:n.2071+84G>A
XM_011534152.1:c.2011+84G>A	XP_011532454.1:n.2011+84G>A
XM_011534149.3:c.2125+84G>A	XP_011532451.1:n.2125+84G>A
XM_011534150.3:c.2080+84G>A	XP_011532452.1:n.2080+84G>A
XM_011534151.3:c.2071+84G>A	XP_011532453.1:n.2071+84G>A
XM_011534152.2:c.2011+84G>A	XP_011532454.1:n.2011+84G>A
XM_017007303.2:c.2002+84G>A	XP_016862792.1:n.2002+84G>A
NM_004656.4:c.2056+84G>A MANE Select	NP_004647.1:n.2056+84G>A