Canonical Allele Identifier: CA353098714

Gene: BAP1

Linked Data

• ClinVar Variation Id: 3224441
• ClinVar RCV Id: RCV004519167
• dbSNP Id: rs2153226477
• gnomAD v4: 3-52403224-C-G
• MyVariant Identifiers: chr3:g.52437240C>G (hg19) ; chr3:g.52403224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403224C>G , CM000665.2:g.52403224C>G	GRCh38
NC_000003.11:g.52437240C>G , CM000665.1:g.52437240C>G	GRCh37
NC_000003.10:g.52412280C>G	NCBI36
NG_031859.1:g.11770G>C , LRG_529:g.11770G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1804G>C MANE Select	ENSP00000417132.1:p.Glu602Gln
ENST00000296288.9:c.1750G>C	ENSP00000296288.5:p.Glu584Gln
ENST00000460680.5:c.1804G>C	ENSP00000417132.1:p.Glu602Gln
ENST00000466093.1:n.211G>C
ENST00000469613.5:c.120-383G>C
ENST00000478368.1:c.307G>C	ENSP00000420647.1:p.Glu103Gln
NM_004656.3:c.1804G>C	NP_004647.1:p.Glu602Gln
XM_011534149.1:c.1804G>C	XP_011532451.1:p.Glu602Gln
XM_011534150.1:c.1804G>C	XP_011532452.1:p.Glu602Gln
XM_011534151.1:c.1750G>C	XP_011532453.1:p.Glu584Gln
XM_011534152.1:c.1804G>C	XP_011532454.1:p.Glu602Gln
XM_011534149.3:c.1804G>C	XP_011532451.1:p.Glu602Gln
XM_011534150.3:c.1804G>C	XP_011532452.1:p.Glu602Gln
XM_011534151.3:c.1750G>C	XP_011532453.1:p.Glu584Gln
XM_011534152.2:c.1804G>C	XP_011532454.1:p.Glu602Gln
XM_017007303.2:c.1750G>C	XP_016862792.1:p.Glu584Gln
NM_004656.4:c.1804G>C MANE Select	NP_004647.1:p.Glu602Gln