Canonical Allele Identifier: CA1364835610
Gene: BAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403181A= , CM000665.2:g.52403181A= GRCh38
NC_000003.11:g.52437197A= , CM000665.1:g.52437197A= GRCh37
NC_000003.10:g.52412237A= NCBI36
NG_031859.1:g.11813T= , LRG_529:g.11813T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1847T= MANE Select ENSP00000417132.1:p.Val616=
ENST00000296288.9:c.1793T= ENSP00000296288.5:p.Val598=
ENST00000460680.5:c.1847T= ENSP00000417132.1:p.Val616=
ENST00000466093.1:n.254T=
ENST00000469613.5:c.120-340T=
ENST00000478368.1:c.350T= ENSP00000420647.1:p.Val117=
NM_004656.3:c.1847T= NP_004647.1:p.Val616=
XM_011534149.1:c.1847T= XP_011532451.1:p.Val616=
XM_011534150.1:c.1845+2T= XP_011532452.1:n.1845+2T=
XM_011534151.1:c.1793T= XP_011532453.1:p.Val598=
XM_011534152.1:c.1845+2T= XP_011532454.1:n.1845+2T=
XM_011534149.3:c.1847T= XP_011532451.1:p.Val616=
XM_011534150.3:c.1845+2T= XP_011532452.1:n.1845+2T=
XM_011534151.3:c.1793T= XP_011532453.1:p.Val598=
XM_011534152.2:c.1845+2T= XP_011532454.1:n.1845+2T=
XM_017007303.2:c.1793T= XP_016862792.1:p.Val598=
NM_004656.4:c.1847T= MANE Select NP_004647.1:p.Val616=