Canonical Allele Identifier: CA353094346

Gene: BAP1

Linked Data

• MyVariant Identifiers: chr3:g.52436390G>C (hg19) ; chr3:g.52402374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402374G>C , CM000665.2:g.52402374G>C	GRCh38
NC_000003.11:g.52436390G>C , CM000665.1:g.52436390G>C	GRCh37
NC_000003.10:g.52411430G>C	NCBI36
NG_031859.1:g.12620C>G , LRG_529:g.12620C>G
NG_052911.1:g.91056G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2104C>G MANE Select	ENSP00000417132.1:p.Gln702Glu
ENST00000296288.9:c.2050C>G	ENSP00000296288.5:p.Gln684Glu
ENST00000460680.5:c.2104C>G	ENSP00000417132.1:p.Gln702Glu
ENST00000466093.1:n.777C>G
ENST00000469613.5:c.303C>G
ENST00000478368.1:c.676C>G	ENSP00000420647.1:p.Gln226Glu
NM_004656.3:c.2104C>G	NP_004647.1:p.Gln702Glu
XM_011534149.1:c.2173C>G	XP_011532451.1:p.Gln725Glu
XM_011534150.1:c.2128C>G	XP_011532452.1:p.Gln710Glu
XM_011534151.1:c.2119C>G	XP_011532453.1:p.Gln707Glu
XM_011534152.1:c.2059C>G	XP_011532454.1:p.Gln687Glu
XM_011534149.3:c.2173C>G	XP_011532451.1:p.Gln725Glu
XM_011534150.3:c.2128C>G	XP_011532452.1:p.Gln710Glu
XM_011534151.3:c.2119C>G	XP_011532453.1:p.Gln707Glu
XM_011534152.2:c.2059C>G	XP_011532454.1:p.Gln687Glu
XM_017007303.2:c.2050C>G	XP_016862792.1:p.Gln684Glu
NM_004656.4:c.2104C>G MANE Select	NP_004647.1:p.Gln702Glu