Canonical Allele Identifier: CA353094497

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226117
• MyVariant Identifiers: chr3:g.52436419A>C (hg19) ; chr3:g.52402403A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402403A>C , CM000665.2:g.52402403A>C	GRCh38
NC_000003.11:g.52436419A>C , CM000665.1:g.52436419A>C	GRCh37
NC_000003.10:g.52411459A>C	NCBI36
NG_031859.1:g.12591T>G , LRG_529:g.12591T>G
NG_052911.1:g.91085A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2075T>G MANE Select	ENSP00000417132.1:p.Val692Gly
ENST00000296288.9:c.2021T>G	ENSP00000296288.5:p.Val674Gly
ENST00000460680.5:c.2075T>G	ENSP00000417132.1:p.Val692Gly
ENST00000466093.1:n.748T>G
ENST00000469613.5:c.274T>G
ENST00000478368.1:c.647T>G	ENSP00000420647.1:p.Val216Gly
NM_004656.3:c.2075T>G	NP_004647.1:p.Val692Gly
XM_011534149.1:c.2144T>G	XP_011532451.1:p.Val715Gly
XM_011534150.1:c.2099T>G	XP_011532452.1:p.Val700Gly
XM_011534151.1:c.2090T>G	XP_011532453.1:p.Val697Gly
XM_011534152.1:c.2030T>G	XP_011532454.1:p.Val677Gly
XM_011534149.3:c.2144T>G	XP_011532451.1:p.Val715Gly
XM_011534150.3:c.2099T>G	XP_011532452.1:p.Val700Gly
XM_011534151.3:c.2090T>G	XP_011532453.1:p.Val697Gly
XM_011534152.2:c.2030T>G	XP_011532454.1:p.Val677Gly
XM_017007303.2:c.2021T>G	XP_016862792.1:p.Val674Gly
NM_004656.4:c.2075T>G MANE Select	NP_004647.1:p.Val692Gly