Canonical Allele Identifier: CA353096296

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226208
• MyVariant Identifiers: chr3:g.52436663A>G (hg19) ; chr3:g.52402647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402647A>G , CM000665.2:g.52402647A>G	GRCh38
NC_000003.11:g.52436663A>G , CM000665.1:g.52436663A>G	GRCh37
NC_000003.10:g.52411703A>G	NCBI36
NG_031859.1:g.12347T>C , LRG_529:g.12347T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2011T>C MANE Select	ENSP00000417132.1:p.Tyr671His
ENST00000296288.9:c.1957T>C	ENSP00000296288.5:p.Tyr653His
ENST00000460680.5:c.2011T>C	ENSP00000417132.1:p.Tyr671His
ENST00000466093.1:n.684T>C
ENST00000469613.5:c.210T>C
ENST00000478368.1:c.583T>C	ENSP00000420647.1:p.Tyr195His
NM_004656.3:c.2011T>C	NP_004647.1:p.Tyr671His
XM_011534149.1:c.2080T>C	XP_011532451.1:p.Tyr694His
XM_011534150.1:c.2035T>C	XP_011532452.1:p.Tyr679His
XM_011534151.1:c.2026T>C	XP_011532453.1:p.Tyr676His
XM_011534152.1:c.1966T>C	XP_011532454.1:p.Tyr656His
XM_011534149.3:c.2080T>C	XP_011532451.1:p.Tyr694His
XM_011534150.3:c.2035T>C	XP_011532452.1:p.Tyr679His
XM_011534151.3:c.2026T>C	XP_011532453.1:p.Tyr676His
XM_011534152.2:c.1966T>C	XP_011532454.1:p.Tyr656His
XM_017007303.2:c.1957T>C	XP_016862792.1:p.Tyr653His
NM_004656.4:c.2011T>C MANE Select	NP_004647.1:p.Tyr671His