Canonical Allele Identifier: CA353100193

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1045137
• ClinVar RCV Id: RCV001349491 ; RCV001806140 ; RCV003145600
• dbSNP Id: rs1705040492
• gnomAD v4: 3-52403515-T-C
• MyVariant Identifiers: chr3:g.52437531T>C (hg19) ; chr3:g.52403515T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403515T>C , CM000665.2:g.52403515T>C	GRCh38
NC_000003.11:g.52437531T>C , CM000665.1:g.52437531T>C	GRCh37
NC_000003.10:g.52412571T>C	NCBI36
NG_031859.1:g.11479A>G , LRG_529:g.11479A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1630A>G MANE Select	ENSP00000417132.1:p.Ile544Val
ENST00000296288.9:c.1576A>G	ENSP00000296288.5:p.Ile526Val
ENST00000460680.5:c.1630A>G	ENSP00000417132.1:p.Ile544Val
ENST00000466093.1:n.37A>G
ENST00000469613.5:c.119+286A>G
ENST00000478368.1:c.133A>G	ENSP00000420647.1:p.Ile45Val
NM_004656.3:c.1630A>G	NP_004647.1:p.Ile544Val
XM_011534149.1:c.1630A>G	XP_011532451.1:p.Ile544Val
XM_011534150.1:c.1630A>G	XP_011532452.1:p.Ile544Val
XM_011534151.1:c.1576A>G	XP_011532453.1:p.Ile526Val
XM_011534152.1:c.1630A>G	XP_011532454.1:p.Ile544Val
XM_011534149.3:c.1630A>G	XP_011532451.1:p.Ile544Val
XM_011534150.3:c.1630A>G	XP_011532452.1:p.Ile544Val
XM_011534151.3:c.1576A>G	XP_011532453.1:p.Ile526Val
XM_011534152.2:c.1630A>G	XP_011532454.1:p.Ile544Val
XM_017007303.2:c.1576A>G	XP_016862792.1:p.Ile526Val
NM_004656.4:c.1630A>G MANE Select	NP_004647.1:p.Ile544Val