Canonical Allele Identifier: CA353106396

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1504011
• ClinVar RCV Id: RCV002025871 ; RCV003326160
• dbSNP Id: rs9848343
• COSMIC: COSM480286
• MyVariant Identifiers: chr3:g.52439311C>A (hg19) ; chr3:g.52405295C>A (hg38)
• MutSpliceDB: CA353106396

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52405295C>A , CM000665.2:g.52405295C>A	GRCh38
NC_000003.11:g.52439311C>A , CM000665.1:g.52439311C>A	GRCh37
NC_000003.10:g.52414351C>A	NCBI36
NG_031859.1:g.9699G>T , LRG_529:g.9699G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.932-1G>T MANE Select	ENSP00000417132.1:n.932-1G>T
ENST00000296288.9:c.878-1G>T	ENSP00000296288.5:n.878-1G>T
ENST00000460680.5:c.932-1G>T	ENSP00000417132.1:n.932-1G>T
ENST00000490804.1:n.359G>T
NM_004656.3:c.932-1G>T	NP_004647.1:n.932-1G>T
XM_011534149.1:c.932-1G>T	XP_011532451.1:n.932-1G>T
XM_011534150.1:c.932-1G>T	XP_011532452.1:n.932-1G>T
XM_011534151.1:c.878-1G>T	XP_011532453.1:n.878-1G>T
XM_011534152.1:c.932-1G>T	XP_011532454.1:n.932-1G>T
XM_011534149.3:c.932-1G>T	XP_011532451.1:n.932-1G>T
XM_011534150.3:c.932-1G>T	XP_011532452.1:n.932-1G>T
XM_011534151.3:c.878-1G>T	XP_011532453.1:n.878-1G>T
XM_011534152.2:c.932-1G>T	XP_011532454.1:n.932-1G>T
XM_017007303.2:c.878-1G>T	XP_016862792.1:n.878-1G>T
NM_004656.4:c.932-1G>T MANE Select	NP_004647.1:n.932-1G>T