Canonical Allele Identifier: CA433885942

Gene: BAP1

Linked Data

• gnomAD v4: 3-52402357-G-T
• MyVariant Identifiers: chr3:g.52436373G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402357G>T , CM000665.2:g.52402357G>T	GRCh38
NC_000003.11:g.52436373G>T , CM000665.1:g.52436373G>T	GRCh37
NC_000003.10:g.52411413G>T	NCBI36
NG_031859.1:g.12637C>A , LRG_529:g.12637C>A
NG_052911.1:g.91039G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2121C>A MANE Select	ENSP00000417132.1:p.Gly707=
ENST00000296288.9:c.2067C>A	ENSP00000296288.5:p.Gly689=
ENST00000460680.5:c.2121C>A	ENSP00000417132.1:p.Gly707=
ENST00000466093.1:n.794C>A
ENST00000469613.5:c.320C>A
ENST00000478368.1:c.693C>A	ENSP00000420647.1:p.Gly231=
NM_004656.3:c.2121C>A	NP_004647.1:p.Gly707=
XM_011534149.1:c.2190C>A	XP_011532451.1:p.Gly730=
XM_011534150.1:c.2145C>A	XP_011532452.1:p.Gly715=
XM_011534151.1:c.2136C>A	XP_011532453.1:p.Gly712=
XM_011534152.1:c.2076C>A	XP_011532454.1:p.Gly692=
XM_011534149.3:c.2190C>A	XP_011532451.1:p.Gly730=
XM_011534150.3:c.2145C>A	XP_011532452.1:p.Gly715=
XM_011534151.3:c.2136C>A	XP_011532453.1:p.Gly712=
XM_011534152.2:c.2076C>A	XP_011532454.1:p.Gly692=
XM_017007303.2:c.2067C>A	XP_016862792.1:p.Gly689=
NM_004656.4:c.2121C>A MANE Select	NP_004647.1:p.Gly707=