Canonical Allele Identifier: CA353096168

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226187
• MyVariant Identifiers: chr3:g.52436632A>T (hg19) ; chr3:g.52402616A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402616A>T , CM000665.2:g.52402616A>T	GRCh38
NC_000003.11:g.52436632A>T , CM000665.1:g.52436632A>T	GRCh37
NC_000003.10:g.52411672A>T	NCBI36
NG_031859.1:g.12378T>A , LRG_529:g.12378T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2042T>A MANE Select	ENSP00000417132.1:p.Met681Lys
ENST00000296288.9:c.1988T>A	ENSP00000296288.5:p.Met663Lys
ENST00000460680.5:c.2042T>A	ENSP00000417132.1:p.Met681Lys
ENST00000466093.1:n.715T>A
ENST00000469613.5:c.241T>A
ENST00000478368.1:c.614T>A	ENSP00000420647.1:p.Met205Lys
NM_004656.3:c.2042T>A	NP_004647.1:p.Met681Lys
XM_011534149.1:c.2111T>A	XP_011532451.1:p.Met704Lys
XM_011534150.1:c.2066T>A	XP_011532452.1:p.Met689Lys
XM_011534151.1:c.2057T>A	XP_011532453.1:p.Met686Lys
XM_011534152.1:c.1997T>A	XP_011532454.1:p.Met666Lys
XM_011534149.3:c.2111T>A	XP_011532451.1:p.Met704Lys
XM_011534150.3:c.2066T>A	XP_011532452.1:p.Met689Lys
XM_011534151.3:c.2057T>A	XP_011532453.1:p.Met686Lys
XM_011534152.2:c.1997T>A	XP_011532454.1:p.Met666Lys
XM_017007303.2:c.1988T>A	XP_016862792.1:p.Met663Lys
NM_004656.4:c.2042T>A MANE Select	NP_004647.1:p.Met681Lys