Canonical Allele Identifier: CA433885961

Gene: BAP1

Linked Data

• gnomAD v4: 3-52402366-G-T
• MyVariant Identifiers: chr3:g.52436382G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402366G>T , CM000665.2:g.52402366G>T	GRCh38
NC_000003.11:g.52436382G>T , CM000665.1:g.52436382G>T	GRCh37
NC_000003.10:g.52411422G>T	NCBI36
NG_031859.1:g.12628C>A , LRG_529:g.12628C>A
NG_052911.1:g.91048G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2112C>A MANE Select	ENSP00000417132.1:p.Val704=
ENST00000296288.9:c.2058C>A	ENSP00000296288.5:p.Val686=
ENST00000460680.5:c.2112C>A	ENSP00000417132.1:p.Val704=
ENST00000466093.1:n.785C>A
ENST00000469613.5:c.311C>A
ENST00000478368.1:c.684C>A	ENSP00000420647.1:p.Val228=
NM_004656.3:c.2112C>A	NP_004647.1:p.Val704=
XM_011534149.1:c.2181C>A	XP_011532451.1:p.Val727=
XM_011534150.1:c.2136C>A	XP_011532452.1:p.Val712=
XM_011534151.1:c.2127C>A	XP_011532453.1:p.Val709=
XM_011534152.1:c.2067C>A	XP_011532454.1:p.Val689=
XM_011534149.3:c.2181C>A	XP_011532451.1:p.Val727=
XM_011534150.3:c.2136C>A	XP_011532452.1:p.Val712=
XM_011534151.3:c.2127C>A	XP_011532453.1:p.Val709=
XM_011534152.2:c.2067C>A	XP_011532454.1:p.Val689=
XM_017007303.2:c.2058C>A	XP_016862792.1:p.Val686=
NM_004656.4:c.2112C>A MANE Select	NP_004647.1:p.Val704=