Canonical Allele Identifier: CA353096379

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226221
• MyVariant Identifiers: chr3:g.52436685A>C (hg19) ; chr3:g.52402669A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402669A>C , CM000665.2:g.52402669A>C	GRCh38
NC_000003.11:g.52436685A>C , CM000665.1:g.52436685A>C	GRCh37
NC_000003.10:g.52411725A>C	NCBI36
NG_031859.1:g.12325T>G , LRG_529:g.12325T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1989T>G MANE Select	ENSP00000417132.1:p.Asp663Glu
ENST00000296288.9:c.1935T>G	ENSP00000296288.5:p.Asp645Glu
ENST00000460680.5:c.1989T>G	ENSP00000417132.1:p.Asp663Glu
ENST00000466093.1:n.662T>G
ENST00000469613.5:c.188T>G
ENST00000478368.1:c.561T>G	ENSP00000420647.1:p.Asp187Glu
NM_004656.3:c.1989T>G	NP_004647.1:p.Asp663Glu
XM_011534149.1:c.2058T>G	XP_011532451.1:p.Asp686Glu
XM_011534150.1:c.2013T>G	XP_011532452.1:p.Asp671Glu
XM_011534151.1:c.2004T>G	XP_011532453.1:p.Asp668Glu
XM_011534152.1:c.1944T>G	XP_011532454.1:p.Asp648Glu
XM_011534149.3:c.2058T>G	XP_011532451.1:p.Asp686Glu
XM_011534150.3:c.2013T>G	XP_011532452.1:p.Asp671Glu
XM_011534151.3:c.2004T>G	XP_011532453.1:p.Asp668Glu
XM_011534152.2:c.1944T>G	XP_011532454.1:p.Asp648Glu
XM_017007303.2:c.1935T>G	XP_016862792.1:p.Asp645Glu
NM_004656.4:c.1989T>G MANE Select	NP_004647.1:p.Asp663Glu