Canonical Allele Identifier: CA353112873

Gene: BAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52408479G>A , CM000665.2:g.52408479G>A	GRCh38
NC_000003.11:g.52442495G>A , CM000665.1:g.52442495G>A	GRCh37
NC_000003.10:g.52417535G>A	NCBI36
NG_031859.1:g.6515C>T , LRG_529:g.6515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.250C>T MANE Select	ENSP00000417132.1:p.His84Tyr
ENST00000296288.9:c.250C>T	ENSP00000296288.5:p.His84Tyr
ENST00000460680.5:c.250C>T	ENSP00000417132.1:p.His84Tyr
ENST00000470173.1:c.13C>T	ENSP00000417776.1:p.His5Tyr
ENST00000483984.5:n.250C>T
ENST00000490917.1:c.123-402C>T	ENSP00000419709.1:n.123-402C>T
NM_004656.3:c.250C>T	NP_004647.1:p.His84Tyr
XM_011534149.1:c.250C>T	XP_011532451.1:p.His84Tyr
XM_011534150.1:c.250C>T	XP_011532452.1:p.His84Tyr
XM_011534151.1:c.250C>T	XP_011532453.1:p.His84Tyr
XM_011534152.1:c.250C>T	XP_011532454.1:p.His84Tyr
XM_011534149.3:c.250C>T	XP_011532451.1:p.His84Tyr
XM_011534150.3:c.250C>T	XP_011532452.1:p.His84Tyr
XM_011534151.3:c.250C>T	XP_011532453.1:p.His84Tyr
XM_011534152.2:c.250C>T	XP_011532454.1:p.His84Tyr
XM_017007303.2:c.250C>T	XP_016862792.1:p.His84Tyr
NM_004656.4:c.250C>T MANE Select	NP_004647.1:p.His84Tyr