Canonical Allele Identifier: CA433886027

Gene: BAP1

Linked Data

• gnomAD v4: 3-52402387-G-T
• MyVariant Identifiers: chr3:g.52436403G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402387G>T , CM000665.2:g.52402387G>T	GRCh38
NC_000003.11:g.52436403G>T , CM000665.1:g.52436403G>T	GRCh37
NC_000003.10:g.52411443G>T	NCBI36
NG_031859.1:g.12607C>A , LRG_529:g.12607C>A
NG_052911.1:g.91069G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2091C>A MANE Select	ENSP00000417132.1:p.Ser697=
ENST00000296288.9:c.2037C>A	ENSP00000296288.5:p.Ser679=
ENST00000460680.5:c.2091C>A	ENSP00000417132.1:p.Ser697=
ENST00000466093.1:n.764C>A
ENST00000469613.5:c.290C>A
ENST00000478368.1:c.663C>A	ENSP00000420647.1:p.Ser221=
NM_004656.3:c.2091C>A	NP_004647.1:p.Ser697=
XM_011534149.1:c.2160C>A	XP_011532451.1:p.Ser720=
XM_011534150.1:c.2115C>A	XP_011532452.1:p.Ser705=
XM_011534151.1:c.2106C>A	XP_011532453.1:p.Ser702=
XM_011534152.1:c.2046C>A	XP_011532454.1:p.Ser682=
XM_011534149.3:c.2160C>A	XP_011532451.1:p.Ser720=
XM_011534150.3:c.2115C>A	XP_011532452.1:p.Ser705=
XM_011534151.3:c.2106C>A	XP_011532453.1:p.Ser702=
XM_011534152.2:c.2046C>A	XP_011532454.1:p.Ser682=
XM_017007303.2:c.2037C>A	XP_016862792.1:p.Ser679=
NM_004656.4:c.2091C>A MANE Select	NP_004647.1:p.Ser697=