Canonical Allele Identifier: CA1364836265

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1026847
• ClinVar RCV Id: RCV001327354
• dbSNP Id: rs1705034559

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403410G>A , CM000665.2:g.52403410G>A	GRCh38
NC_000003.11:g.52437426G>A , CM000665.1:g.52437426G>A	GRCh37
NC_000003.10:g.52412466G>A	NCBI36
NG_031859.1:g.11584C>T , LRG_529:g.11584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1729+6C>T MANE Select	ENSP00000417132.1:n.1729+6C>T
ENST00000296288.9:c.1675+6C>T	ENSP00000296288.5:n.1675+6C>T
ENST00000460680.5:c.1729+6C>T	ENSP00000417132.1:n.1729+6C>T
ENST00000466093.1:n.136+6C>T
ENST00000469613.5:c.119+391C>T
ENST00000478368.1:c.232+6C>T	ENSP00000420647.1:n.232+6C>T
NM_004656.3:c.1729+6C>T	NP_004647.1:n.1729+6C>T
XM_011534149.1:c.1729+6C>T	XP_011532451.1:n.1729+6C>T
XM_011534150.1:c.1729+6C>T	XP_011532452.1:n.1729+6C>T
XM_011534151.1:c.1675+6C>T	XP_011532453.1:n.1675+6C>T
XM_011534152.1:c.1729+6C>T	XP_011532454.1:n.1729+6C>T
XM_011534149.3:c.1729+6C>T	XP_011532451.1:n.1729+6C>T
XM_011534150.3:c.1729+6C>T	XP_011532452.1:n.1729+6C>T
XM_011534151.3:c.1675+6C>T	XP_011532453.1:n.1675+6C>T
XM_011534152.2:c.1729+6C>T	XP_011532454.1:n.1729+6C>T
XM_017007303.2:c.1675+6C>T	XP_016862792.1:n.1675+6C>T
NM_004656.4:c.1729+6C>T MANE Select	NP_004647.1:n.1729+6C>T