Canonical Allele Identifier: CA129103
Gene: BAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30302
dbSNP Id: rs387906848
COSMIC: COSM96358

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402608G>A , CM000665.2:g.52402608G>A GRCh38
NC_000003.11:g.52436624G>A , CM000665.1:g.52436624G>A GRCh37
NC_000003.10:g.52411664G>A NCBI36
NG_031859.1:g.12386C>T , LRG_529:g.12386C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000460680.6:c.2050C>T MANE Select ENSP00000417132.1:p.Gln684Ter
ENST00000296288.9:c.1996C>T ENSP00000296288.5:p.Gln666Ter
ENST00000460680.5:c.2050C>T ENSP00000417132.1:p.Gln684Ter
ENST00000466093.1:n.723C>T
ENST00000469613.5:n.249C>T
ENST00000478368.1:n.622C>T ENSP00000420647.1:p.Gln208Ter
NM_004656.3:c.2050C>T NP_004647.1:p.Gln684Ter
XM_011534149.1:c.2119C>T XP_011532451.1:p.Gln707Ter
XM_011534150.1:c.2074C>T XP_011532452.1:p.Gln692Ter
XM_011534151.1:c.2065C>T XP_011532453.1:p.Gln689Ter
XM_011534152.1:c.2005C>T XP_011532454.1:p.Gln669Ter
XM_011534149.3:c.2119C>T XP_011532451.1:p.Gln707Ter
XM_011534150.3:c.2074C>T XP_011532452.1:p.Gln692Ter
XM_011534151.3:c.2065C>T XP_011532453.1:p.Gln689Ter
XM_011534152.2:c.2005C>T XP_011532454.1:p.Gln669Ter
XM_017007303.2:c.1996C>T XP_016862792.1:p.Gln666Ter
NM_004656.4:c.2050C>T MANE Select NP_004647.1:p.Gln684Ter