Canonical Allele Identifier: CA353096276

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2626728
• ClinVar RCV Id: RCV003384268
• COSMIC: COSM51981
• MyVariant Identifiers: chr3:g.52436659T>C (hg19) ; chr3:g.52402643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402643T>C , CM000665.2:g.52402643T>C	GRCh38
NC_000003.11:g.52436659T>C , CM000665.1:g.52436659T>C	GRCh37
NC_000003.10:g.52411699T>C	NCBI36
NG_031859.1:g.12351A>G , LRG_529:g.12351A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2015A>G MANE Select	ENSP00000417132.1:p.Asp672Gly
ENST00000296288.9:c.1961A>G	ENSP00000296288.5:p.Asp654Gly
ENST00000460680.5:c.2015A>G	ENSP00000417132.1:p.Asp672Gly
ENST00000466093.1:n.688A>G
ENST00000469613.5:c.214A>G
ENST00000478368.1:c.587A>G	ENSP00000420647.1:p.Asp196Gly
NM_004656.3:c.2015A>G	NP_004647.1:p.Asp672Gly
XM_011534149.1:c.2084A>G	XP_011532451.1:p.Asp695Gly
XM_011534150.1:c.2039A>G	XP_011532452.1:p.Asp680Gly
XM_011534151.1:c.2030A>G	XP_011532453.1:p.Asp677Gly
XM_011534152.1:c.1970A>G	XP_011532454.1:p.Asp657Gly
XM_011534149.3:c.2084A>G	XP_011532451.1:p.Asp695Gly
XM_011534150.3:c.2039A>G	XP_011532452.1:p.Asp680Gly
XM_011534151.3:c.2030A>G	XP_011532453.1:p.Asp677Gly
XM_011534152.2:c.1970A>G	XP_011532454.1:p.Asp657Gly
XM_017007303.2:c.1961A>G	XP_016862792.1:p.Asp654Gly
NM_004656.4:c.2015A>G MANE Select	NP_004647.1:p.Asp672Gly