Canonical Allele Identifier: CA353110648

Gene: BAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52407399C>G , CM000665.2:g.52407399C>G	GRCh38
NC_000003.11:g.52441415C>G , CM000665.1:g.52441415C>G	GRCh37
NC_000003.10:g.52416455C>G	NCBI36
NG_031859.1:g.7595G>C , LRG_529:g.7595G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004656.4:c.437G>C MANE Select	NP_004647.1:p.Arg146Thr
ENST00000460680.6:c.437G>C MANE Select	ENSP00000417132.1:p.Arg146Thr
NM_004656.3:c.437G>C	NP_004647.1:p.Arg146Thr
ENST00000296288.9:c.437G>C	ENSP00000296288.5:p.Arg146Thr
ENST00000460680.5:c.437G>C	ENSP00000417132.1:p.Arg146Thr
ENST00000470173.1:c.200G>C	ENSP00000417776.1:p.Arg67Thr
ENST00000471532.5:n.152G>C
ENST00000483984.5:n.437G>C
ENST00000490917.1:c.*178G>C	ENSP00000419709.1:n.*178G>C
XM_011534149.1:c.437G>C	XP_011532451.1:p.Arg146Thr
XM_011534149.3:c.437G>C	XP_011532451.1:p.Arg146Thr
XM_011534150.1:c.437G>C	XP_011532452.1:p.Arg146Thr
XM_011534150.3:c.437G>C	XP_011532452.1:p.Arg146Thr
XM_011534151.1:c.437G>C	XP_011532453.1:p.Arg146Thr
XM_011534151.3:c.437G>C	XP_011532453.1:p.Arg146Thr
XM_011534152.1:c.437G>C	XP_011532454.1:p.Arg146Thr
XM_011534152.2:c.437G>C	XP_011532454.1:p.Arg146Thr
XM_017007303.2:c.437G>C	XP_016862792.1:p.Arg146Thr