Canonical Allele Identifier: CA74739909

Gene: BAP1

Linked Data

• dbSNP Id: rs1025448678
• MyVariant Identifiers: chr3:g.52436470T>C (hg19) ; chr3:g.52402454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402454T>C , CM000665.2:g.52402454T>C	GRCh38
NC_000003.11:g.52436470T>C , CM000665.1:g.52436470T>C	GRCh37
NC_000003.10:g.52411510T>C	NCBI36
NG_031859.1:g.12540A>G , LRG_529:g.12540A>G
NG_052911.1:g.91136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2057-33A>G MANE Select	ENSP00000417132.1:n.2057-33A>G
ENST00000296288.9:c.2003-33A>G	ENSP00000296288.5:n.2003-33A>G
ENST00000460680.5:c.2057-33A>G	ENSP00000417132.1:n.2057-33A>G
ENST00000466093.1:n.730-33A>G
ENST00000469613.5:c.256-33A>G
ENST00000478368.1:c.629-33A>G	ENSP00000420647.1:n.629-33A>G
NM_004656.3:c.2057-33A>G	NP_004647.1:n.2057-33A>G
XM_011534149.1:c.2126-33A>G	XP_011532451.1:n.2126-33A>G
XM_011534150.1:c.2081-33A>G	XP_011532452.1:n.2081-33A>G
XM_011534151.1:c.2072-33A>G	XP_011532453.1:n.2072-33A>G
XM_011534152.1:c.2012-33A>G	XP_011532454.1:n.2012-33A>G
XM_011534149.3:c.2126-33A>G	XP_011532451.1:n.2126-33A>G
XM_011534150.3:c.2081-33A>G	XP_011532452.1:n.2081-33A>G
XM_011534151.3:c.2072-33A>G	XP_011532453.1:n.2072-33A>G
XM_011534152.2:c.2012-33A>G	XP_011532454.1:n.2012-33A>G
XM_017007303.2:c.2003-33A>G	XP_016862792.1:n.2003-33A>G
NM_004656.4:c.2057-33A>G MANE Select	NP_004647.1:n.2057-33A>G