Canonical Allele Identifier: CA433885726

Gene: BAP1

Linked Data

• ClinVar Variation Id: 472688
• ClinVar RCV Id: RCV000551851 ; RCV000582444
• dbSNP Id: rs1482074290
• gnomAD v3: 3-52402683-G-C
• gnomAD v4: 3-52402683-G-C
• MyVariant Identifiers: chr3:g.52436699G>C (hg19) ; chr3:g.52402683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402683G>C , CM000665.2:g.52402683G>C	GRCh38
NC_000003.11:g.52436699G>C , CM000665.1:g.52436699G>C	GRCh37
NC_000003.10:g.52411739G>C	NCBI36
NG_031859.1:g.12311C>G , LRG_529:g.12311C>G

Transcript Alleles

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