Canonical Allele Identifier: CA543056553

Gene: BAP1

Linked Data

• dbSNP Id: rs1323253291
• gnomAD v2: 3-52436977-C-T
• gnomAD v3: 3-52402961-C-T
• gnomAD v4: 3-52402961-C-T
• COSMIC: COSN20961754
• MyVariant Identifiers: chr3:g.52436977C>T (hg19) ; chr3:g.52402961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402961C>T , CM000665.2:g.52402961C>T	GRCh38
NC_000003.11:g.52436977C>T , CM000665.1:g.52436977C>T	GRCh37
NC_000003.10:g.52412017C>T	NCBI36
NG_031859.1:g.12033G>A , LRG_529:g.12033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1891-90G>A MANE Select	ENSP00000417132.1:n.1891-90G>A
ENST00000296288.9:c.1837-90G>A	ENSP00000296288.5:n.1837-90G>A
ENST00000460680.5:c.1891-90G>A	ENSP00000417132.1:n.1891-90G>A
ENST00000466093.1:n.474G>A
ENST00000469613.5:c.120-120G>A
ENST00000478368.1:c.394-21G>A	ENSP00000420647.1:n.394-21G>A
NM_004656.3:c.1891-90G>A	NP_004647.1:n.1891-90G>A
XM_011534149.1:c.1891-21G>A	XP_011532451.1:n.1891-21G>A
XM_011534150.1:c.1846-21G>A	XP_011532452.1:n.1846-21G>A
XM_011534151.1:c.1837-21G>A	XP_011532453.1:n.1837-21G>A
XM_011534152.1:c.1846-90G>A	XP_011532454.1:n.1846-90G>A
XM_011534149.3:c.1891-21G>A	XP_011532451.1:n.1891-21G>A
XM_011534150.3:c.1846-21G>A	XP_011532452.1:n.1846-21G>A
XM_011534151.3:c.1837-21G>A	XP_011532453.1:n.1837-21G>A
XM_011534152.2:c.1846-90G>A	XP_011532454.1:n.1846-90G>A
XM_017007303.2:c.1837-90G>A	XP_016862792.1:n.1837-90G>A
NM_004656.4:c.1891-90G>A MANE Select	NP_004647.1:n.1891-90G>A