Canonical Allele Identifier: CA353094524

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2125648
• ClinVar RCV Id: RCV003043723
• dbSNP Id: rs1553644559
• MyVariant Identifiers: chr3:g.52436424G>T (hg19) ; chr3:g.52402408G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402408G>T , CM000665.2:g.52402408G>T	GRCh38
NC_000003.11:g.52436424G>T , CM000665.1:g.52436424G>T	GRCh37
NC_000003.10:g.52411464G>T	NCBI36
NG_031859.1:g.12586C>A , LRG_529:g.12586C>A
NG_052911.1:g.91090G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2070C>A MANE Select	ENSP00000417132.1:p.Asn690Lys
ENST00000296288.9:c.2016C>A	ENSP00000296288.5:p.Asn672Lys
ENST00000460680.5:c.2070C>A	ENSP00000417132.1:p.Asn690Lys
ENST00000466093.1:n.743C>A
ENST00000469613.5:c.269C>A
ENST00000478368.1:c.642C>A	ENSP00000420647.1:p.Asn214Lys
NM_004656.3:c.2070C>A	NP_004647.1:p.Asn690Lys
XM_011534149.1:c.2139C>A	XP_011532451.1:p.Asn713Lys
XM_011534150.1:c.2094C>A	XP_011532452.1:p.Asn698Lys
XM_011534151.1:c.2085C>A	XP_011532453.1:p.Asn695Lys
XM_011534152.1:c.2025C>A	XP_011532454.1:p.Asn675Lys
XM_011534149.3:c.2139C>A	XP_011532451.1:p.Asn713Lys
XM_011534150.3:c.2094C>A	XP_011532452.1:p.Asn698Lys
XM_011534151.3:c.2085C>A	XP_011532453.1:p.Asn695Lys
XM_011534152.2:c.2025C>A	XP_011532454.1:p.Asn675Lys
XM_017007303.2:c.2016C>A	XP_016862792.1:p.Asn672Lys
NM_004656.4:c.2070C>A MANE Select	NP_004647.1:p.Asn690Lys