Canonical Allele Identifier: CA2573137298

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1610592
• ClinVar RCV Id: RCV002145383
• dbSNP Id: rs2153226423

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403125A>C , CM000665.2:g.52403125A>C	GRCh38
NC_000003.11:g.52437141A>C , CM000665.1:g.52437141A>C	GRCh37
NC_000003.10:g.52412181A>C	NCBI36
NG_031859.1:g.11869T>G , LRG_529:g.11869T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1890+13T>G MANE Select	ENSP00000417132.1:n.1890+13T>G
ENST00000296288.9:c.1836+13T>G	ENSP00000296288.5:n.1836+13T>G
ENST00000460680.5:c.1890+13T>G	ENSP00000417132.1:n.1890+13T>G
ENST00000466093.1:n.310T>G
ENST00000469613.5:c.120-284T>G
ENST00000478368.1:c.393+13T>G	ENSP00000420647.1:n.393+13T>G
NM_004656.3:c.1890+13T>G	NP_004647.1:n.1890+13T>G
XM_011534149.1:c.1890+13T>G	XP_011532451.1:n.1890+13T>G
XM_011534150.1:c.1845+58T>G	XP_011532452.1:n.1845+58T>G
XM_011534151.1:c.1836+13T>G	XP_011532453.1:n.1836+13T>G
XM_011534152.1:c.1845+58T>G	XP_011532454.1:n.1845+58T>G
XM_011534149.3:c.1890+13T>G	XP_011532451.1:n.1890+13T>G
XM_011534150.3:c.1845+58T>G	XP_011532452.1:n.1845+58T>G
XM_011534151.3:c.1836+13T>G	XP_011532453.1:n.1836+13T>G
XM_011534152.2:c.1845+58T>G	XP_011532454.1:n.1845+58T>G
XM_017007303.2:c.1836+13T>G	XP_016862792.1:n.1836+13T>G
NM_004656.4:c.1890+13T>G MANE Select	NP_004647.1:n.1890+13T>G