Canonical Allele Identifier: CA2436699

Gene: BAP1

Linked Data

• ClinVar Variation Id: 918309
• ClinVar RCV Id: RCV001175818 ; RCV001369287
• dbSNP Id: rs116604051
• ExAC: 3:52437187 G / A
• gnomAD v2: 3-52437187-G-A
• gnomAD v3: 3-52403171-G-A
• gnomAD v4: 3-52403171-G-A
• MyVariant Identifiers: chr3:g.52437187G>A (hg19) ; chr3:g.52403171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403171G>A , CM000665.2:g.52403171G>A	GRCh38
NC_000003.11:g.52437187G>A , CM000665.1:g.52437187G>A	GRCh37
NC_000003.10:g.52412227G>A	NCBI36
NG_031859.1:g.11823C>T , LRG_529:g.11823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1857C>T MANE Select	ENSP00000417132.1:p.Gly619=
ENST00000296288.9:c.1803C>T	ENSP00000296288.5:p.Gly601=
ENST00000460680.5:c.1857C>T	ENSP00000417132.1:p.Gly619=
ENST00000466093.1:n.264C>T
ENST00000469613.5:c.120-330C>T
ENST00000478368.1:c.360C>T	ENSP00000420647.1:p.Gly120=
NM_004656.3:c.1857C>T	NP_004647.1:p.Gly619=
XM_011534149.1:c.1857C>T	XP_011532451.1:p.Gly619=
XM_011534150.1:c.1845+12C>T	XP_011532452.1:n.1845+12C>T
XM_011534151.1:c.1803C>T	XP_011532453.1:p.Gly601=
XM_011534152.1:c.1845+12C>T	XP_011532454.1:n.1845+12C>T
XM_011534149.3:c.1857C>T	XP_011532451.1:p.Gly619=
XM_011534150.3:c.1845+12C>T	XP_011532452.1:n.1845+12C>T
XM_011534151.3:c.1803C>T	XP_011532453.1:p.Gly601=
XM_011534152.2:c.1845+12C>T	XP_011532454.1:n.1845+12C>T
XM_017007303.2:c.1803C>T	XP_016862792.1:p.Gly601=
NM_004656.4:c.1857C>T MANE Select	NP_004647.1:p.Gly619=