Canonical Allele Identifier: CA353096118

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226178
• MyVariant Identifiers: chr3:g.52436621C>A (hg19) ; chr3:g.52402605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402605C>A , CM000665.2:g.52402605C>A	GRCh38
NC_000003.11:g.52436621C>A , CM000665.1:g.52436621C>A	GRCh37
NC_000003.10:g.52411661C>A	NCBI36
NG_031859.1:g.12389G>T , LRG_529:g.12389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2053G>T MANE Select	ENSP00000417132.1:p.Glu685Ter
ENST00000296288.9:c.1999G>T	ENSP00000296288.5:p.Glu667Ter
ENST00000460680.5:c.2053G>T	ENSP00000417132.1:p.Glu685Ter
ENST00000466093.1:n.726G>T
ENST00000469613.5:c.252G>T
ENST00000478368.1:c.625G>T	ENSP00000420647.1:p.Glu209Ter
NM_004656.3:c.2053G>T	NP_004647.1:p.Glu685Ter
XM_011534149.1:c.2122G>T	XP_011532451.1:p.Glu708Ter
XM_011534150.1:c.2077G>T	XP_011532452.1:p.Glu693Ter
XM_011534151.1:c.2068G>T	XP_011532453.1:p.Glu690Ter
XM_011534152.1:c.2008G>T	XP_011532454.1:p.Glu670Ter
XM_011534149.3:c.2122G>T	XP_011532451.1:p.Glu708Ter
XM_011534150.3:c.2077G>T	XP_011532452.1:p.Glu693Ter
XM_011534151.3:c.2068G>T	XP_011532453.1:p.Glu690Ter
XM_011534152.2:c.2008G>T	XP_011532454.1:p.Glu670Ter
XM_017007303.2:c.1999G>T	XP_016862792.1:p.Glu667Ter
NM_004656.4:c.2053G>T MANE Select	NP_004647.1:p.Glu685Ter