Canonical Allele Identifier: CA433885703

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1581571
• ClinVar RCV Id: RCV002088495 ; RCV002423346
• dbSNP Id: rs2153226190
• MyVariant Identifiers: chr3:g.52436640A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402624A>G , CM000665.2:g.52402624A>G	GRCh38
NC_000003.11:g.52436640A>G , CM000665.1:g.52436640A>G	GRCh37
NC_000003.10:g.52411680A>G	NCBI36
NG_031859.1:g.12370T>C , LRG_529:g.12370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2034T>C MANE Select	ENSP00000417132.1:p.Phe678=
ENST00000296288.9:c.1980T>C	ENSP00000296288.5:p.Phe660=
ENST00000460680.5:c.2034T>C	ENSP00000417132.1:p.Phe678=
ENST00000466093.1:n.707T>C
ENST00000469613.5:c.233T>C
ENST00000478368.1:c.606T>C	ENSP00000420647.1:p.Phe202=
NM_004656.3:c.2034T>C	NP_004647.1:p.Phe678=
XM_011534149.1:c.2103T>C	XP_011532451.1:p.Phe701=
XM_011534150.1:c.2058T>C	XP_011532452.1:p.Phe686=
XM_011534151.1:c.2049T>C	XP_011532453.1:p.Phe683=
XM_011534152.1:c.1989T>C	XP_011532454.1:p.Phe663=
XM_011534149.3:c.2103T>C	XP_011532451.1:p.Phe701=
XM_011534150.3:c.2058T>C	XP_011532452.1:p.Phe686=
XM_011534151.3:c.2049T>C	XP_011532453.1:p.Phe683=
XM_011534152.2:c.1989T>C	XP_011532454.1:p.Phe663=
XM_017007303.2:c.1980T>C	XP_016862792.1:p.Phe660=
NM_004656.4:c.2034T>C MANE Select	NP_004647.1:p.Phe678=