Canonical Allele Identifier: CA2522418033

Gene: BAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403038T>A , CM000665.2:g.52403038T>A	GRCh38
NC_000003.11:g.52437054T>A , CM000665.1:g.52437054T>A	GRCh37
NC_000003.10:g.52412094T>A	NCBI36
NG_031859.1:g.11956A>T , LRG_529:g.11956A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1890+100A>T MANE Select	ENSP00000417132.1:n.1890+100A>T
ENST00000296288.9:c.1836+100A>T	ENSP00000296288.5:n.1836+100A>T
ENST00000460680.5:c.1890+100A>T	ENSP00000417132.1:n.1890+100A>T
ENST00000466093.1:n.397A>T
ENST00000469613.5:c.120-197A>T
ENST00000478368.1:c.394-98A>T	ENSP00000420647.1:n.394-98A>T
NM_004656.3:c.1890+100A>T	NP_004647.1:n.1890+100A>T
XM_011534149.1:c.1891-98A>T	XP_011532451.1:n.1891-98A>T
XM_011534150.1:c.1846-98A>T	XP_011532452.1:n.1846-98A>T
XM_011534151.1:c.1837-98A>T	XP_011532453.1:n.1837-98A>T
XM_011534152.1:c.1845+145A>T	XP_011532454.1:n.1845+145A>T
XM_011534149.3:c.1891-98A>T	XP_011532451.1:n.1891-98A>T
XM_011534150.3:c.1846-98A>T	XP_011532452.1:n.1846-98A>T
XM_011534151.3:c.1837-98A>T	XP_011532453.1:n.1837-98A>T
XM_011534152.2:c.1845+145A>T	XP_011532454.1:n.1845+145A>T
XM_017007303.2:c.1836+100A>T	XP_016862792.1:n.1836+100A>T
NM_004656.4:c.1890+100A>T MANE Select	NP_004647.1:n.1890+100A>T