Canonical Allele Identifier: CA16611511

Gene: BAP1

Linked Data

• ClinVar Variation Id: 412421
• ClinVar RCV Id: RCV000457903 ; RCV003584616
• dbSNP Id: rs1060503738
• MyVariant Identifiers: chr3:g.52436642A>T (hg19) ; chr3:g.52402626A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402626A>T , CM000665.2:g.52402626A>T	GRCh38
NC_000003.11:g.52436642A>T , CM000665.1:g.52436642A>T	GRCh37
NC_000003.10:g.52411682A>T	NCBI36
NG_031859.1:g.12368T>A , LRG_529:g.12368T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2032T>A MANE Select	ENSP00000417132.1:p.Phe678Ile
ENST00000296288.9:c.1978T>A	ENSP00000296288.5:p.Phe660Ile
ENST00000460680.5:c.2032T>A	ENSP00000417132.1:p.Phe678Ile
ENST00000466093.1:n.705T>A
ENST00000469613.5:c.231T>A
ENST00000478368.1:c.604T>A	ENSP00000420647.1:p.Phe202Ile
NM_004656.3:c.2032T>A	NP_004647.1:p.Phe678Ile
XM_011534149.1:c.2101T>A	XP_011532451.1:p.Phe701Ile
XM_011534150.1:c.2056T>A	XP_011532452.1:p.Phe686Ile
XM_011534151.1:c.2047T>A	XP_011532453.1:p.Phe683Ile
XM_011534152.1:c.1987T>A	XP_011532454.1:p.Phe663Ile
XM_011534149.3:c.2101T>A	XP_011532451.1:p.Phe701Ile
XM_011534150.3:c.2056T>A	XP_011532452.1:p.Phe686Ile
XM_011534151.3:c.2047T>A	XP_011532453.1:p.Phe683Ile
XM_011534152.2:c.1987T>A	XP_011532454.1:p.Phe663Ile
XM_017007303.2:c.1978T>A	XP_016862792.1:p.Phe660Ile
NM_004656.4:c.2032T>A MANE Select	NP_004647.1:p.Phe678Ile