Canonical Allele Identifier: CA353096196

Gene: BAP1

Linked Data

• ClinVar Variation Id: 820530
• ClinVar RCV Id: RCV001014091
• dbSNP Id: rs1578218674
• gnomAD v4: 3-52402623-T-C
• MyVariant Identifiers: chr3:g.52436639T>C (hg19) ; chr3:g.52402623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402623T>C , CM000665.2:g.52402623T>C	GRCh38
NC_000003.11:g.52436639T>C , CM000665.1:g.52436639T>C	GRCh37
NC_000003.10:g.52411679T>C	NCBI36
NG_031859.1:g.12371A>G , LRG_529:g.12371A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2035A>G MANE Select	ENSP00000417132.1:p.Ile679Val
ENST00000296288.9:c.1981A>G	ENSP00000296288.5:p.Ile661Val
ENST00000460680.5:c.2035A>G	ENSP00000417132.1:p.Ile679Val
ENST00000466093.1:n.708A>G
ENST00000469613.5:c.234A>G
ENST00000478368.1:c.607A>G	ENSP00000420647.1:p.Ile203Val
NM_004656.3:c.2035A>G	NP_004647.1:p.Ile679Val
XM_011534149.1:c.2104A>G	XP_011532451.1:p.Ile702Val
XM_011534150.1:c.2059A>G	XP_011532452.1:p.Ile687Val
XM_011534151.1:c.2050A>G	XP_011532453.1:p.Ile684Val
XM_011534152.1:c.1990A>G	XP_011532454.1:p.Ile664Val
XM_011534149.3:c.2104A>G	XP_011532451.1:p.Ile702Val
XM_011534150.3:c.2059A>G	XP_011532452.1:p.Ile687Val
XM_011534151.3:c.2050A>G	XP_011532453.1:p.Ile684Val
XM_011534152.2:c.1990A>G	XP_011532454.1:p.Ile664Val
XM_017007303.2:c.1981A>G	XP_016862792.1:p.Ile661Val
NM_004656.4:c.2035A>G MANE Select	NP_004647.1:p.Ile679Val