Canonical Allele Identifier: CA353096315

Gene: BAP1

Linked Data

• MyVariant Identifiers: chr3:g.52436667G>T (hg19) ; chr3:g.52402651G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402651G>T , CM000665.2:g.52402651G>T	GRCh38
NC_000003.11:g.52436667G>T , CM000665.1:g.52436667G>T	GRCh37
NC_000003.10:g.52411707G>T	NCBI36
NG_031859.1:g.12343C>A , LRG_529:g.12343C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2007C>A MANE Select	ENSP00000417132.1:p.His669Gln
ENST00000296288.9:c.1953C>A	ENSP00000296288.5:p.His651Gln
ENST00000460680.5:c.2007C>A	ENSP00000417132.1:p.His669Gln
ENST00000466093.1:n.680C>A
ENST00000469613.5:c.206C>A
ENST00000478368.1:c.579C>A	ENSP00000420647.1:p.His193Gln
NM_004656.3:c.2007C>A	NP_004647.1:p.His669Gln
XM_011534149.1:c.2076C>A	XP_011532451.1:p.His692Gln
XM_011534150.1:c.2031C>A	XP_011532452.1:p.His677Gln
XM_011534151.1:c.2022C>A	XP_011532453.1:p.His674Gln
XM_011534152.1:c.1962C>A	XP_011532454.1:p.His654Gln
XM_011534149.3:c.2076C>A	XP_011532451.1:p.His692Gln
XM_011534150.3:c.2031C>A	XP_011532452.1:p.His677Gln
XM_011534151.3:c.2022C>A	XP_011532453.1:p.His674Gln
XM_011534152.2:c.1962C>A	XP_011532454.1:p.His654Gln
XM_017007303.2:c.1953C>A	XP_016862792.1:p.His651Gln
NM_004656.4:c.2007C>A MANE Select	NP_004647.1:p.His669Gln