Canonical Allele Identifier: CA353096221

Gene: BAP1

Linked Data

• MyVariant Identifiers: chr3:g.52436646G>T (hg19) ; chr3:g.52402630G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402630G>T , CM000665.2:g.52402630G>T	GRCh38
NC_000003.11:g.52436646G>T , CM000665.1:g.52436646G>T	GRCh37
NC_000003.10:g.52411686G>T	NCBI36
NG_031859.1:g.12364C>A , LRG_529:g.12364C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2028C>A MANE Select	ENSP00000417132.1:p.Cys676Ter
ENST00000296288.9:c.1974C>A	ENSP00000296288.5:p.Cys658Ter
ENST00000460680.5:c.2028C>A	ENSP00000417132.1:p.Cys676Ter
ENST00000466093.1:n.701C>A
ENST00000469613.5:c.227C>A
ENST00000478368.1:c.600C>A	ENSP00000420647.1:p.Cys200Ter
NM_004656.3:c.2028C>A	NP_004647.1:p.Cys676Ter
XM_011534149.1:c.2097C>A	XP_011532451.1:p.Cys699Ter
XM_011534150.1:c.2052C>A	XP_011532452.1:p.Cys684Ter
XM_011534151.1:c.2043C>A	XP_011532453.1:p.Cys681Ter
XM_011534152.1:c.1983C>A	XP_011532454.1:p.Cys661Ter
XM_011534149.3:c.2097C>A	XP_011532451.1:p.Cys699Ter
XM_011534150.3:c.2052C>A	XP_011532452.1:p.Cys684Ter
XM_011534151.3:c.2043C>A	XP_011532453.1:p.Cys681Ter
XM_011534152.2:c.1983C>A	XP_011532454.1:p.Cys661Ter
XM_017007303.2:c.1974C>A	XP_016862792.1:p.Cys658Ter
NM_004656.4:c.2028C>A MANE Select	NP_004647.1:p.Cys676Ter