Canonical Allele Identifier: CA353096152

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226185
• MyVariant Identifiers: chr3:g.52436630G>C (hg19) ; chr3:g.52402614G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402614G>C , CM000665.2:g.52402614G>C	GRCh38
NC_000003.11:g.52436630G>C , CM000665.1:g.52436630G>C	GRCh37
NC_000003.10:g.52411670G>C	NCBI36
NG_031859.1:g.12380C>G , LRG_529:g.12380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2044C>G MANE Select	ENSP00000417132.1:p.Leu682Val
ENST00000296288.9:c.1990C>G	ENSP00000296288.5:p.Leu664Val
ENST00000460680.5:c.2044C>G	ENSP00000417132.1:p.Leu682Val
ENST00000466093.1:n.717C>G
ENST00000469613.5:c.243C>G
ENST00000478368.1:c.616C>G	ENSP00000420647.1:p.Leu206Val
NM_004656.3:c.2044C>G	NP_004647.1:p.Leu682Val
XM_011534149.1:c.2113C>G	XP_011532451.1:p.Leu705Val
XM_011534150.1:c.2068C>G	XP_011532452.1:p.Leu690Val
XM_011534151.1:c.2059C>G	XP_011532453.1:p.Leu687Val
XM_011534152.1:c.1999C>G	XP_011532454.1:p.Leu667Val
XM_011534149.3:c.2113C>G	XP_011532451.1:p.Leu705Val
XM_011534150.3:c.2068C>G	XP_011532452.1:p.Leu690Val
XM_011534151.3:c.2059C>G	XP_011532453.1:p.Leu687Val
XM_011534152.2:c.1999C>G	XP_011532454.1:p.Leu667Val
XM_017007303.2:c.1990C>G	XP_016862792.1:p.Leu664Val
NM_004656.4:c.2044C>G MANE Select	NP_004647.1:p.Leu682Val