Canonical Allele Identifier: CA353094270

Gene: BAP1

Linked Data

• MyVariant Identifiers: chr3:g.52436375C>G (hg19) ; chr3:g.52402359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402359C>G , CM000665.2:g.52402359C>G	GRCh38
NC_000003.11:g.52436375C>G , CM000665.1:g.52436375C>G	GRCh37
NC_000003.10:g.52411415C>G	NCBI36
NG_031859.1:g.12635G>C , LRG_529:g.12635G>C
NG_052911.1:g.91041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2119G>C MANE Select	ENSP00000417132.1:p.Gly707Arg
ENST00000296288.9:c.2065G>C	ENSP00000296288.5:p.Gly689Arg
ENST00000460680.5:c.2119G>C	ENSP00000417132.1:p.Gly707Arg
ENST00000466093.1:n.792G>C
ENST00000469613.5:c.318G>C
ENST00000478368.1:c.691G>C	ENSP00000420647.1:p.Gly231Arg
NM_004656.3:c.2119G>C	NP_004647.1:p.Gly707Arg
XM_011534149.1:c.2188G>C	XP_011532451.1:p.Gly730Arg
XM_011534150.1:c.2143G>C	XP_011532452.1:p.Gly715Arg
XM_011534151.1:c.2134G>C	XP_011532453.1:p.Gly712Arg
XM_011534152.1:c.2074G>C	XP_011532454.1:p.Gly692Arg
XM_011534149.3:c.2188G>C	XP_011532451.1:p.Gly730Arg
XM_011534150.3:c.2143G>C	XP_011532452.1:p.Gly715Arg
XM_011534151.3:c.2134G>C	XP_011532453.1:p.Gly712Arg
XM_011534152.2:c.2074G>C	XP_011532454.1:p.Gly692Arg
XM_017007303.2:c.2065G>C	XP_016862792.1:p.Gly689Arg
NM_004656.4:c.2119G>C MANE Select	NP_004647.1:p.Gly707Arg