Canonical Allele Identifier: CA353096146

Gene: BAP1

Linked Data

• MyVariant Identifiers: chr3:g.52436629A>G (hg19) ; chr3:g.52402613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402613A>G , CM000665.2:g.52402613A>G	GRCh38
NC_000003.11:g.52436629A>G , CM000665.1:g.52436629A>G	GRCh37
NC_000003.10:g.52411669A>G	NCBI36
NG_031859.1:g.12381T>C , LRG_529:g.12381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2045T>C MANE Select	ENSP00000417132.1:p.Leu682Pro
ENST00000296288.9:c.1991T>C	ENSP00000296288.5:p.Leu664Pro
ENST00000460680.5:c.2045T>C	ENSP00000417132.1:p.Leu682Pro
ENST00000466093.1:n.718T>C
ENST00000469613.5:c.244T>C
ENST00000478368.1:c.617T>C	ENSP00000420647.1:p.Leu206Pro
NM_004656.3:c.2045T>C	NP_004647.1:p.Leu682Pro
XM_011534149.1:c.2114T>C	XP_011532451.1:p.Leu705Pro
XM_011534150.1:c.2069T>C	XP_011532452.1:p.Leu690Pro
XM_011534151.1:c.2060T>C	XP_011532453.1:p.Leu687Pro
XM_011534152.1:c.2000T>C	XP_011532454.1:p.Leu667Pro
XM_011534149.3:c.2114T>C	XP_011532451.1:p.Leu705Pro
XM_011534150.3:c.2069T>C	XP_011532452.1:p.Leu690Pro
XM_011534151.3:c.2060T>C	XP_011532453.1:p.Leu687Pro
XM_011534152.2:c.2000T>C	XP_011532454.1:p.Leu667Pro
XM_017007303.2:c.1991T>C	XP_016862792.1:p.Leu664Pro
NM_004656.4:c.2045T>C MANE Select	NP_004647.1:p.Leu682Pro