Canonical Allele Identifier: CA1047968625

Gene: BAP1

Linked Data

• dbSNP Id: rs1705016163
• gnomAD v3: 3-52402998-C-G
• gnomAD v4: 3-52402998-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402998C>G , CM000665.2:g.52402998C>G	GRCh38
NC_000003.11:g.52437014C>G , CM000665.1:g.52437014C>G	GRCh37
NC_000003.10:g.52412054C>G	NCBI36
NG_031859.1:g.11996G>C , LRG_529:g.11996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1891-127G>C MANE Select	ENSP00000417132.1:n.1891-127G>C
ENST00000296288.9:c.1837-127G>C	ENSP00000296288.5:n.1837-127G>C
ENST00000460680.5:c.1891-127G>C	ENSP00000417132.1:n.1891-127G>C
ENST00000466093.1:n.437G>C
ENST00000469613.5:c.120-157G>C
ENST00000478368.1:c.394-58G>C	ENSP00000420647.1:n.394-58G>C
NM_004656.3:c.1891-127G>C	NP_004647.1:n.1891-127G>C
XM_011534149.1:c.1891-58G>C	XP_011532451.1:n.1891-58G>C
XM_011534150.1:c.1846-58G>C	XP_011532452.1:n.1846-58G>C
XM_011534151.1:c.1837-58G>C	XP_011532453.1:n.1837-58G>C
XM_011534152.1:c.1846-127G>C	XP_011532454.1:n.1846-127G>C
XM_011534149.3:c.1891-58G>C	XP_011532451.1:n.1891-58G>C
XM_011534150.3:c.1846-58G>C	XP_011532452.1:n.1846-58G>C
XM_011534151.3:c.1837-58G>C	XP_011532453.1:n.1837-58G>C
XM_011534152.2:c.1846-127G>C	XP_011532454.1:n.1846-127G>C
XM_017007303.2:c.1837-127G>C	XP_016862792.1:n.1837-127G>C
NM_004656.4:c.1891-127G>C MANE Select	NP_004647.1:n.1891-127G>C