Canonical Allele Identifier: CA433885722

Gene: BAP1

Linked Data

• ClinVar Variation Id: 490832
• ClinVar RCV Id: RCV000583450 ; RCV002529208
• dbSNP Id: rs1553644633
• MyVariant Identifiers: chr3:g.52436682G>A (hg19) ; chr3:g.52402666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402666G>A , CM000665.2:g.52402666G>A	GRCh38
NC_000003.11:g.52436682G>A , CM000665.1:g.52436682G>A	GRCh37
NC_000003.10:g.52411722G>A	NCBI36
NG_031859.1:g.12328C>T , LRG_529:g.12328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1992C>T MANE Select	ENSP00000417132.1:p.Asp664=
ENST00000296288.9:c.1938C>T	ENSP00000296288.5:p.Asp646=
ENST00000460680.5:c.1992C>T	ENSP00000417132.1:p.Asp664=
ENST00000466093.1:n.665C>T
ENST00000469613.5:c.191C>T
ENST00000478368.1:c.564C>T	ENSP00000420647.1:p.Asp188=
NM_004656.3:c.1992C>T	NP_004647.1:p.Asp664=
XM_011534149.1:c.2061C>T	XP_011532451.1:p.Asp687=
XM_011534150.1:c.2016C>T	XP_011532452.1:p.Asp672=
XM_011534151.1:c.2007C>T	XP_011532453.1:p.Asp669=
XM_011534152.1:c.1947C>T	XP_011532454.1:p.Asp649=
XM_011534149.3:c.2061C>T	XP_011532451.1:p.Asp687=
XM_011534150.3:c.2016C>T	XP_011532452.1:p.Asp672=
XM_011534151.3:c.2007C>T	XP_011532453.1:p.Asp669=
XM_011534152.2:c.1947C>T	XP_011532454.1:p.Asp649=
XM_017007303.2:c.1938C>T	XP_016862792.1:p.Asp646=
NM_004656.4:c.1992C>T MANE Select	NP_004647.1:p.Asp664=