Canonical Allele Identifier: CA913188132

Gene: BAP1

Linked Data

• ClinVar Variation Id: 630974
• ClinVar RCV Id: RCV000777000 ; RCV002536714
• dbSNP Id: rs1559586367
• gnomAD v4: 3-52403405-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403405C>T , CM000665.2:g.52403405C>T	GRCh38
NC_000003.11:g.52437421C>T , CM000665.1:g.52437421C>T	GRCh37
NC_000003.10:g.52412461C>T	NCBI36
NG_031859.1:g.11589G>A , LRG_529:g.11589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1729+11G>A MANE Select	ENSP00000417132.1:n.1729+11G>A
ENST00000296288.9:c.1675+11G>A	ENSP00000296288.5:n.1675+11G>A
ENST00000460680.5:c.1729+11G>A	ENSP00000417132.1:n.1729+11G>A
ENST00000466093.1:n.136+11G>A
ENST00000469613.5:c.119+396G>A
ENST00000478368.1:c.232+11G>A	ENSP00000420647.1:n.232+11G>A
NM_004656.3:c.1729+11G>A	NP_004647.1:n.1729+11G>A
XM_011534149.1:c.1729+11G>A	XP_011532451.1:n.1729+11G>A
XM_011534150.1:c.1729+11G>A	XP_011532452.1:n.1729+11G>A
XM_011534151.1:c.1675+11G>A	XP_011532453.1:n.1675+11G>A
XM_011534152.1:c.1729+11G>A	XP_011532454.1:n.1729+11G>A
XM_011534149.3:c.1729+11G>A	XP_011532451.1:n.1729+11G>A
XM_011534150.3:c.1729+11G>A	XP_011532452.1:n.1729+11G>A
XM_011534151.3:c.1675+11G>A	XP_011532453.1:n.1675+11G>A
XM_011534152.2:c.1729+11G>A	XP_011532454.1:n.1729+11G>A
XM_017007303.2:c.1675+11G>A	XP_016862792.1:n.1675+11G>A
NM_004656.4:c.1729+11G>A MANE Select	NP_004647.1:n.1729+11G>A