Canonical Allele Identifier: CA433885770

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226433
• MyVariant Identifiers: chr3:g.52437160T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403144T>A , CM000665.2:g.52403144T>A	GRCh38
NC_000003.11:g.52437160T>A , CM000665.1:g.52437160T>A	GRCh37
NC_000003.10:g.52412200T>A	NCBI36
NG_031859.1:g.11850A>T , LRG_529:g.11850A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1884A>T MANE Select	ENSP00000417132.1:p.Ser628=
ENST00000296288.9:c.1830A>T	ENSP00000296288.5:p.Ser610=
ENST00000460680.5:c.1884A>T	ENSP00000417132.1:p.Ser628=
ENST00000466093.1:n.291A>T
ENST00000469613.5:c.120-303A>T
ENST00000478368.1:c.387A>T	ENSP00000420647.1:p.Ser129=
NM_004656.3:c.1884A>T	NP_004647.1:p.Ser628=
XM_011534149.1:c.1884A>T	XP_011532451.1:p.Ser628=
XM_011534150.1:c.1845+39A>T	XP_011532452.1:n.1845+39A>T
XM_011534151.1:c.1830A>T	XP_011532453.1:p.Ser610=
XM_011534152.1:c.1845+39A>T	XP_011532454.1:n.1845+39A>T
XM_011534149.3:c.1884A>T	XP_011532451.1:p.Ser628=
XM_011534150.3:c.1845+39A>T	XP_011532452.1:n.1845+39A>T
XM_011534151.3:c.1830A>T	XP_011532453.1:p.Ser610=
XM_011534152.2:c.1845+39A>T	XP_011532454.1:n.1845+39A>T
XM_017007303.2:c.1830A>T	XP_016862792.1:p.Ser610=
NM_004656.4:c.1884A>T MANE Select	NP_004647.1:p.Ser628=