Canonical Allele Identifier: CA2702828599

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226260

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402735G>A , CM000665.2:g.52402735G>A	GRCh38
NC_000003.11:g.52436751G>A , CM000665.1:g.52436751G>A	GRCh37
NC_000003.10:g.52411791G>A	NCBI36
NG_031859.1:g.12259C>T , LRG_529:g.12259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1983+44C>T MANE Select	ENSP00000417132.1:n.1983+44C>T
ENST00000296288.9:c.1929+44C>T	ENSP00000296288.5:n.1929+44C>T
ENST00000460680.5:c.1983+44C>T	ENSP00000417132.1:n.1983+44C>T
ENST00000466093.1:n.656+44C>T
ENST00000469613.5:c.182+44C>T
ENST00000478368.1:c.555+44C>T	ENSP00000420647.1:n.555+44C>T
NM_004656.3:c.1983+44C>T	NP_004647.1:n.1983+44C>T
XM_011534149.1:c.2052+44C>T	XP_011532451.1:n.2052+44C>T
XM_011534150.1:c.2007+44C>T	XP_011532452.1:n.2007+44C>T
XM_011534151.1:c.1998+44C>T	XP_011532453.1:n.1998+44C>T
XM_011534152.1:c.1938+44C>T	XP_011532454.1:n.1938+44C>T
XM_011534149.3:c.2052+44C>T	XP_011532451.1:n.2052+44C>T
XM_011534150.3:c.2007+44C>T	XP_011532452.1:n.2007+44C>T
XM_011534151.3:c.1998+44C>T	XP_011532453.1:n.1998+44C>T
XM_011534152.2:c.1938+44C>T	XP_011532454.1:n.1938+44C>T
XM_017007303.2:c.1929+44C>T	XP_016862792.1:n.1929+44C>T
NM_004656.4:c.1983+44C>T MANE Select	NP_004647.1:n.1983+44C>T