Canonical Allele Identifier: CA353098947

Gene: BAP1

Linked Data

• ClinVar Variation Id: 485292
• ClinVar RCV Id: RCV000649801 ; RCV000565092 ; RCV003318599
• dbSNP Id: rs1553644733
• gnomAD v4: 3-52403250-T-C
• MyVariant Identifiers: chr3:g.52437266T>C (hg19) ; chr3:g.52403250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403250T>C , CM000665.2:g.52403250T>C	GRCh38
NC_000003.11:g.52437266T>C , CM000665.1:g.52437266T>C	GRCh37
NC_000003.10:g.52412306T>C	NCBI36
NG_031859.1:g.11744A>G , LRG_529:g.11744A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1778A>G MANE Select	ENSP00000417132.1:p.Gln593Arg
ENST00000296288.9:c.1724A>G	ENSP00000296288.5:p.Gln575Arg
ENST00000460680.5:c.1778A>G	ENSP00000417132.1:p.Gln593Arg
ENST00000466093.1:n.185A>G
ENST00000469613.5:c.120-409A>G
ENST00000478368.1:c.281A>G	ENSP00000420647.1:p.Gln94Arg
NM_004656.3:c.1778A>G	NP_004647.1:p.Gln593Arg
XM_011534149.1:c.1778A>G	XP_011532451.1:p.Gln593Arg
XM_011534150.1:c.1778A>G	XP_011532452.1:p.Gln593Arg
XM_011534151.1:c.1724A>G	XP_011532453.1:p.Gln575Arg
XM_011534152.1:c.1778A>G	XP_011532454.1:p.Gln593Arg
XM_011534149.3:c.1778A>G	XP_011532451.1:p.Gln593Arg
XM_011534150.3:c.1778A>G	XP_011532452.1:p.Gln593Arg
XM_011534151.3:c.1724A>G	XP_011532453.1:p.Gln575Arg
XM_011534152.2:c.1778A>G	XP_011532454.1:p.Gln593Arg
XM_017007303.2:c.1724A>G	XP_016862792.1:p.Gln575Arg
NM_004656.4:c.1778A>G MANE Select	NP_004647.1:p.Gln593Arg