Canonical Allele Identifier: CA353096338
Gene: BAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2153226218

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402658C>A , CM000665.2:g.52402658C>A GRCh38
NC_000003.11:g.52436674C>A , CM000665.1:g.52436674C>A GRCh37
NC_000003.10:g.52411714C>A NCBI36
NG_031859.1:g.12336G>T , LRG_529:g.12336G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.2000G>T MANE Select ENSP00000417132.1:p.Arg667Met
ENST00000296288.9:c.1946G>T ENSP00000296288.5:p.Arg649Met
ENST00000460680.5:c.2000G>T ENSP00000417132.1:p.Arg667Met
ENST00000466093.1:n.673G>T
ENST00000469613.5:c.199G>T
ENST00000478368.1:c.572G>T ENSP00000420647.1:p.Arg191Met
NM_004656.3:c.2000G>T NP_004647.1:p.Arg667Met
XM_011534149.1:c.2069G>T XP_011532451.1:p.Arg690Met
XM_011534150.1:c.2024G>T XP_011532452.1:p.Arg675Met
XM_011534151.1:c.2015G>T XP_011532453.1:p.Arg672Met
XM_011534152.1:c.1955G>T XP_011532454.1:p.Arg652Met
XM_011534149.3:c.2069G>T XP_011532451.1:p.Arg690Met
XM_011534150.3:c.2024G>T XP_011532452.1:p.Arg675Met
XM_011534151.3:c.2015G>T XP_011532453.1:p.Arg672Met
XM_011534152.2:c.1955G>T XP_011532454.1:p.Arg652Met
XM_017007303.2:c.1946G>T XP_016862792.1:p.Arg649Met
NM_004656.4:c.2000G>T MANE Select NP_004647.1:p.Arg667Met