Canonical Allele Identifier: CA353096395

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2983695
• ClinVar RCV Id: RCV003840790
• dbSNP Id: rs773857745
• COSMIC: COSM3365362
• MyVariant Identifiers: chr3:g.52436689A>T (hg19) ; chr3:g.52402673A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402673A>T , CM000665.2:g.52402673A>T	GRCh38
NC_000003.11:g.52436689A>T , CM000665.1:g.52436689A>T	GRCh37
NC_000003.10:g.52411729A>T	NCBI36
NG_031859.1:g.12321T>A , LRG_529:g.12321T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1985T>A MANE Select	ENSP00000417132.1:p.Ile662Asn
ENST00000296288.9:c.1931T>A	ENSP00000296288.5:p.Ile644Asn
ENST00000460680.5:c.1985T>A	ENSP00000417132.1:p.Ile662Asn
ENST00000466093.1:n.658T>A
ENST00000469613.5:c.184T>A
ENST00000478368.1:c.557T>A	ENSP00000420647.1:p.Ile186Asn
NM_004656.3:c.1985T>A	NP_004647.1:p.Ile662Asn
XM_011534149.1:c.2054T>A	XP_011532451.1:p.Ile685Asn
XM_011534150.1:c.2009T>A	XP_011532452.1:p.Ile670Asn
XM_011534151.1:c.2000T>A	XP_011532453.1:p.Ile667Asn
XM_011534152.1:c.1940T>A	XP_011532454.1:p.Ile647Asn
XM_011534149.3:c.2054T>A	XP_011532451.1:p.Ile685Asn
XM_011534150.3:c.2009T>A	XP_011532452.1:p.Ile670Asn
XM_011534151.3:c.2000T>A	XP_011532453.1:p.Ile667Asn
XM_011534152.2:c.1940T>A	XP_011532454.1:p.Ile647Asn
XM_017007303.2:c.1931T>A	XP_016862792.1:p.Ile644Asn
NM_004656.4:c.1985T>A MANE Select	NP_004647.1:p.Ile662Asn