Canonical Allele Identifier: CA913188113

Gene: BAP1

Linked Data

• ClinVar Variation Id: 627877
• ClinVar RCV Id: RCV000771766 ; RCV003117557
• dbSNP Id: rs1559584819
• gnomAD v4: 3-52402438-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402438A>C , CM000665.2:g.52402438A>C	GRCh38
NC_000003.11:g.52436454A>C , CM000665.1:g.52436454A>C	GRCh37
NC_000003.10:g.52411494A>C	NCBI36
NG_031859.1:g.12556T>G , LRG_529:g.12556T>G
NG_052911.1:g.91120A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2057-17T>G MANE Select	ENSP00000417132.1:n.2057-17T>G
ENST00000296288.9:c.2003-17T>G	ENSP00000296288.5:n.2003-17T>G
ENST00000460680.5:c.2057-17T>G	ENSP00000417132.1:n.2057-17T>G
ENST00000466093.1:n.730-17T>G
ENST00000469613.5:c.256-17T>G
ENST00000478368.1:c.629-17T>G	ENSP00000420647.1:n.629-17T>G
NM_004656.3:c.2057-17T>G	NP_004647.1:n.2057-17T>G
XM_011534149.1:c.2126-17T>G	XP_011532451.1:n.2126-17T>G
XM_011534150.1:c.2081-17T>G	XP_011532452.1:n.2081-17T>G
XM_011534151.1:c.2072-17T>G	XP_011532453.1:n.2072-17T>G
XM_011534152.1:c.2012-17T>G	XP_011532454.1:n.2012-17T>G
XM_011534149.3:c.2126-17T>G	XP_011532451.1:n.2126-17T>G
XM_011534150.3:c.2081-17T>G	XP_011532452.1:n.2081-17T>G
XM_011534151.3:c.2072-17T>G	XP_011532453.1:n.2072-17T>G
XM_011534152.2:c.2012-17T>G	XP_011532454.1:n.2012-17T>G
XM_017007303.2:c.2003-17T>G	XP_016862792.1:n.2003-17T>G
NM_004656.4:c.2057-17T>G MANE Select	NP_004647.1:n.2057-17T>G