Canonical Allele Identifier: CA353096239

Gene: BAP1

Linked Data

• dbSNP Id: rs1250373530
• MyVariant Identifiers: chr3:g.52436651T>G (hg19) ; chr3:g.52402635T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402635T>G , CM000665.2:g.52402635T>G	GRCh38
NC_000003.11:g.52436651T>G , CM000665.1:g.52436651T>G	GRCh37
NC_000003.10:g.52411691T>G	NCBI36
NG_031859.1:g.12359A>C , LRG_529:g.12359A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2023A>C MANE Select	ENSP00000417132.1:p.Ile675Leu
ENST00000296288.9:c.1969A>C	ENSP00000296288.5:p.Ile657Leu
ENST00000460680.5:c.2023A>C	ENSP00000417132.1:p.Ile675Leu
ENST00000466093.1:n.696A>C
ENST00000469613.5:c.222A>C
ENST00000478368.1:c.595A>C	ENSP00000420647.1:p.Ile199Leu
NM_004656.3:c.2023A>C	NP_004647.1:p.Ile675Leu
XM_011534149.1:c.2092A>C	XP_011532451.1:p.Ile698Leu
XM_011534150.1:c.2047A>C	XP_011532452.1:p.Ile683Leu
XM_011534151.1:c.2038A>C	XP_011532453.1:p.Ile680Leu
XM_011534152.1:c.1978A>C	XP_011532454.1:p.Ile660Leu
XM_011534149.3:c.2092A>C	XP_011532451.1:p.Ile698Leu
XM_011534150.3:c.2047A>C	XP_011532452.1:p.Ile683Leu
XM_011534151.3:c.2038A>C	XP_011532453.1:p.Ile680Leu
XM_011534152.2:c.1978A>C	XP_011532454.1:p.Ile660Leu
XM_017007303.2:c.1969A>C	XP_016862792.1:p.Ile657Leu
NM_004656.4:c.2023A>C MANE Select	NP_004647.1:p.Ile675Leu