Canonical Allele Identifier: CA353096223
Gene: BAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2153226195

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402631C>A , CM000665.2:g.52402631C>A GRCh38
NC_000003.11:g.52436647C>A , CM000665.1:g.52436647C>A GRCh37
NC_000003.10:g.52411687C>A NCBI36
NG_031859.1:g.12363G>T , LRG_529:g.12363G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.2027G>T MANE Select ENSP00000417132.1:p.Cys676Phe
ENST00000296288.9:c.1973G>T ENSP00000296288.5:p.Cys658Phe
ENST00000460680.5:c.2027G>T ENSP00000417132.1:p.Cys676Phe
ENST00000466093.1:n.700G>T
ENST00000469613.5:c.226G>T
ENST00000478368.1:c.599G>T ENSP00000420647.1:p.Cys200Phe
NM_004656.3:c.2027G>T NP_004647.1:p.Cys676Phe
XM_011534149.1:c.2096G>T XP_011532451.1:p.Cys699Phe
XM_011534150.1:c.2051G>T XP_011532452.1:p.Cys684Phe
XM_011534151.1:c.2042G>T XP_011532453.1:p.Cys681Phe
XM_011534152.1:c.1982G>T XP_011532454.1:p.Cys661Phe
XM_011534149.3:c.2096G>T XP_011532451.1:p.Cys699Phe
XM_011534150.3:c.2051G>T XP_011532452.1:p.Cys684Phe
XM_011534151.3:c.2042G>T XP_011532453.1:p.Cys681Phe
XM_011534152.2:c.1982G>T XP_011532454.1:p.Cys661Phe
XM_017007303.2:c.1973G>T XP_016862792.1:p.Cys658Phe
NM_004656.4:c.2027G>T MANE Select NP_004647.1:p.Cys676Phe