Canonical Allele Identifier: CA433885702

Gene: BAP1

Linked Data

• ClinVar Variation Id: 921705
• ClinVar RCV Id: RCV001181261
• dbSNP Id: rs775374708
• gnomAD v4: 3-52402621-G-A
• MyVariant Identifiers: chr3:g.52436637G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402621G>A , CM000665.2:g.52402621G>A	GRCh38
NC_000003.11:g.52436637G>A , CM000665.1:g.52436637G>A	GRCh37
NC_000003.10:g.52411677G>A	NCBI36
NG_031859.1:g.12373C>T , LRG_529:g.12373C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2037C>T MANE Select	ENSP00000417132.1:p.Ile679=
ENST00000296288.9:c.1983C>T	ENSP00000296288.5:p.Ile661=
ENST00000460680.5:c.2037C>T	ENSP00000417132.1:p.Ile679=
ENST00000466093.1:n.710C>T
ENST00000469613.5:c.236C>T
ENST00000478368.1:c.609C>T	ENSP00000420647.1:p.Ile203=
NM_004656.3:c.2037C>T	NP_004647.1:p.Ile679=
XM_011534149.1:c.2106C>T	XP_011532451.1:p.Ile702=
XM_011534150.1:c.2061C>T	XP_011532452.1:p.Ile687=
XM_011534151.1:c.2052C>T	XP_011532453.1:p.Ile684=
XM_011534152.1:c.1992C>T	XP_011532454.1:p.Ile664=
XM_011534149.3:c.2106C>T	XP_011532451.1:p.Ile702=
XM_011534150.3:c.2061C>T	XP_011532452.1:p.Ile687=
XM_011534151.3:c.2052C>T	XP_011532453.1:p.Ile684=
XM_011534152.2:c.1992C>T	XP_011532454.1:p.Ile664=
XM_017007303.2:c.1983C>T	XP_016862792.1:p.Ile661=
NM_004656.4:c.2037C>T MANE Select	NP_004647.1:p.Ile679=