Canonical Allele Identifier: CA353099500

Gene: BAP1

Linked Data

• COSMIC: COSM4387442
• MyVariant Identifiers: chr3:g.52437432C>G (hg19) ; chr3:g.52403416C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403416C>G , CM000665.2:g.52403416C>G	GRCh38
NC_000003.11:g.52437432C>G , CM000665.1:g.52437432C>G	GRCh37
NC_000003.10:g.52412472C>G	NCBI36
NG_031859.1:g.11578G>C , LRG_529:g.11578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1729G>C MANE Select	ENSP00000417132.1:p.Glu577Gln
ENST00000296288.9:c.1675G>C	ENSP00000296288.5:p.Glu559Gln
ENST00000460680.5:c.1729G>C	ENSP00000417132.1:p.Glu577Gln
ENST00000466093.1:n.136G>C
ENST00000469613.5:c.119+385G>C
ENST00000478368.1:c.232G>C	ENSP00000420647.1:p.Glu78Gln
NM_004656.3:c.1729G>C	NP_004647.1:p.Glu577Gln
XM_011534149.1:c.1729G>C	XP_011532451.1:p.Glu577Gln
XM_011534150.1:c.1729G>C	XP_011532452.1:p.Glu577Gln
XM_011534151.1:c.1675G>C	XP_011532453.1:p.Glu559Gln
XM_011534152.1:c.1729G>C	XP_011532454.1:p.Glu577Gln
XM_011534149.3:c.1729G>C	XP_011532451.1:p.Glu577Gln
XM_011534150.3:c.1729G>C	XP_011532452.1:p.Glu577Gln
XM_011534151.3:c.1675G>C	XP_011532453.1:p.Glu559Gln
XM_011534152.2:c.1729G>C	XP_011532454.1:p.Glu577Gln
XM_017007303.2:c.1675G>C	XP_016862792.1:p.Glu559Gln
NM_004656.4:c.1729G>C MANE Select	NP_004647.1:p.Glu577Gln