Canonical Allele Identifier: CA1047968531

Gene: BAP1

Linked Data

• dbSNP Id: rs1705003863
• gnomAD v3: 3-52402719-A-G
• gnomAD v4: 3-52402719-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402719A>G , CM000665.2:g.52402719A>G	GRCh38
NC_000003.11:g.52436735A>G , CM000665.1:g.52436735A>G	GRCh37
NC_000003.10:g.52411775A>G	NCBI36
NG_031859.1:g.12275T>C , LRG_529:g.12275T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1984-45T>C MANE Select	ENSP00000417132.1:n.1984-45T>C
ENST00000296288.9:c.1930-45T>C	ENSP00000296288.5:n.1930-45T>C
ENST00000460680.5:c.1984-45T>C	ENSP00000417132.1:n.1984-45T>C
ENST00000466093.1:n.657-45T>C
ENST00000469613.5:c.183-45T>C
ENST00000478368.1:c.556-45T>C	ENSP00000420647.1:n.556-45T>C
NM_004656.3:c.1984-45T>C	NP_004647.1:n.1984-45T>C
XM_011534149.1:c.2053-45T>C	XP_011532451.1:n.2053-45T>C
XM_011534150.1:c.2008-45T>C	XP_011532452.1:n.2008-45T>C
XM_011534151.1:c.1999-45T>C	XP_011532453.1:n.1999-45T>C
XM_011534152.1:c.1939-45T>C	XP_011532454.1:n.1939-45T>C
XM_011534149.3:c.2053-45T>C	XP_011532451.1:n.2053-45T>C
XM_011534150.3:c.2008-45T>C	XP_011532452.1:n.2008-45T>C
XM_011534151.3:c.1999-45T>C	XP_011532453.1:n.1999-45T>C
XM_011534152.2:c.1939-45T>C	XP_011532454.1:n.1939-45T>C
XM_017007303.2:c.1930-45T>C	XP_016862792.1:n.1930-45T>C
NM_004656.4:c.1984-45T>C MANE Select	NP_004647.1:n.1984-45T>C