Canonical Allele Identifier: CA353100185

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1776843
• ClinVar RCV Id: RCV002401301 ; RCV003528392
• dbSNP Id: rs2153226630
• MyVariant Identifiers: chr3:g.52437530A>T (hg19) ; chr3:g.52403514A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403514A>T , CM000665.2:g.52403514A>T	GRCh38
NC_000003.11:g.52437530A>T , CM000665.1:g.52437530A>T	GRCh37
NC_000003.10:g.52412570A>T	NCBI36
NG_031859.1:g.11480T>A , LRG_529:g.11480T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1631T>A MANE Select	ENSP00000417132.1:p.Ile544Lys
ENST00000296288.9:c.1577T>A	ENSP00000296288.5:p.Ile526Lys
ENST00000460680.5:c.1631T>A	ENSP00000417132.1:p.Ile544Lys
ENST00000466093.1:n.38T>A
ENST00000469613.5:c.119+287T>A
ENST00000478368.1:c.134T>A	ENSP00000420647.1:p.Ile45Lys
NM_004656.3:c.1631T>A	NP_004647.1:p.Ile544Lys
XM_011534149.1:c.1631T>A	XP_011532451.1:p.Ile544Lys
XM_011534150.1:c.1631T>A	XP_011532452.1:p.Ile544Lys
XM_011534151.1:c.1577T>A	XP_011532453.1:p.Ile526Lys
XM_011534152.1:c.1631T>A	XP_011532454.1:p.Ile544Lys
XM_011534149.3:c.1631T>A	XP_011532451.1:p.Ile544Lys
XM_011534150.3:c.1631T>A	XP_011532452.1:p.Ile544Lys
XM_011534151.3:c.1577T>A	XP_011532453.1:p.Ile526Lys
XM_011534152.2:c.1631T>A	XP_011532454.1:p.Ile544Lys
XM_017007303.2:c.1577T>A	XP_016862792.1:p.Ile526Lys
NM_004656.4:c.1631T>A MANE Select	NP_004647.1:p.Ile544Lys