Canonical Allele Identifier: CA1364836549
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403529A= , CM000665.2:g.52403529A= GRCh38
NC_000003.11:g.52437545A= , CM000665.1:g.52437545A= GRCh37
NC_000003.10:g.52412585A= NCBI36
NG_031859.1:g.11465T= , LRG_529:g.11465T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1616T= MANE Select ENSP00000417132.1:p.Leu539=
ENST00000296288.9:c.1562T= ENSP00000296288.5:p.Leu521=
ENST00000460680.5:c.1616T= ENSP00000417132.1:p.Leu539=
ENST00000466093.1:n.23T=
ENST00000469613.5:c.119+272T=
ENST00000478368.1:c.119T= ENSP00000420647.1:p.Leu40=
NM_004656.3:c.1616T= NP_004647.1:p.Leu539=
XM_011534149.1:c.1616T= XP_011532451.1:p.Leu539=
XM_011534150.1:c.1616T= XP_011532452.1:p.Leu539=
XM_011534151.1:c.1562T= XP_011532453.1:p.Leu521=
XM_011534152.1:c.1616T= XP_011532454.1:p.Leu539=
XM_011534149.3:c.1616T= XP_011532451.1:p.Leu539=
XM_011534150.3:c.1616T= XP_011532452.1:p.Leu539=
XM_011534151.3:c.1562T= XP_011532453.1:p.Leu521=
XM_011534152.2:c.1616T= XP_011532454.1:p.Leu539=
XM_017007303.2:c.1562T= XP_016862792.1:p.Leu521=
NM_004656.4:c.1616T= MANE Select NP_004647.1:p.Leu539=