Canonical Allele Identifier: CA353094253

Gene: BAP1

Linked Data

• MyVariant Identifiers: chr3:g.52436371C>G (hg19) ; chr3:g.52402355C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402355C>G , CM000665.2:g.52402355C>G	GRCh38
NC_000003.11:g.52436371C>G , CM000665.1:g.52436371C>G	GRCh37
NC_000003.10:g.52411411C>G	NCBI36
NG_031859.1:g.12639G>C , LRG_529:g.12639G>C
NG_052911.1:g.91037C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2123G>C MANE Select	ENSP00000417132.1:p.Arg708Pro
ENST00000296288.9:c.2069G>C	ENSP00000296288.5:p.Arg690Pro
ENST00000460680.5:c.2123G>C	ENSP00000417132.1:p.Arg708Pro
ENST00000466093.1:n.796G>C
ENST00000469613.5:c.322G>C
ENST00000478368.1:c.695G>C	ENSP00000420647.1:p.Arg232Pro
NM_004656.3:c.2123G>C	NP_004647.1:p.Arg708Pro
XM_011534149.1:c.2192G>C	XP_011532451.1:p.Arg731Pro
XM_011534150.1:c.2147G>C	XP_011532452.1:p.Arg716Pro
XM_011534151.1:c.2138G>C	XP_011532453.1:p.Arg713Pro
XM_011534152.1:c.2078G>C	XP_011532454.1:p.Arg693Pro
XM_011534149.3:c.2192G>C	XP_011532451.1:p.Arg731Pro
XM_011534150.3:c.2147G>C	XP_011532452.1:p.Arg716Pro
XM_011534151.3:c.2138G>C	XP_011532453.1:p.Arg713Pro
XM_011534152.2:c.2078G>C	XP_011532454.1:p.Arg693Pro
XM_017007303.2:c.2069G>C	XP_016862792.1:p.Arg690Pro
NM_004656.4:c.2123G>C MANE Select	NP_004647.1:p.Arg708Pro