Canonical Allele Identifier: CA353094556

Gene: BAP1

Linked Data

• gnomAD v4: 3-52402416-G-T
• MyVariant Identifiers: chr3:g.52436432G>T (hg19) ; chr3:g.52402416G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402416G>T , CM000665.2:g.52402416G>T	GRCh38
NC_000003.11:g.52436432G>T , CM000665.1:g.52436432G>T	GRCh37
NC_000003.10:g.52411472G>T	NCBI36
NG_031859.1:g.12578C>A , LRG_529:g.12578C>A
NG_052911.1:g.91098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2062C>A MANE Select	ENSP00000417132.1:p.Leu688Met
ENST00000296288.9:c.2008C>A	ENSP00000296288.5:p.Leu670Met
ENST00000460680.5:c.2062C>A	ENSP00000417132.1:p.Leu688Met
ENST00000466093.1:n.735C>A
ENST00000469613.5:c.261C>A
ENST00000478368.1:c.634C>A	ENSP00000420647.1:p.Leu212Met
NM_004656.3:c.2062C>A	NP_004647.1:p.Leu688Met
XM_011534149.1:c.2131C>A	XP_011532451.1:p.Leu711Met
XM_011534150.1:c.2086C>A	XP_011532452.1:p.Leu696Met
XM_011534151.1:c.2077C>A	XP_011532453.1:p.Leu693Met
XM_011534152.1:c.2017C>A	XP_011532454.1:p.Leu673Met
XM_011534149.3:c.2131C>A	XP_011532451.1:p.Leu711Met
XM_011534150.3:c.2086C>A	XP_011532452.1:p.Leu696Met
XM_011534151.3:c.2077C>A	XP_011532453.1:p.Leu693Met
XM_011534152.2:c.2017C>A	XP_011532454.1:p.Leu673Met
XM_017007303.2:c.2008C>A	XP_016862792.1:p.Leu670Met
NM_004656.4:c.2062C>A MANE Select	NP_004647.1:p.Leu688Met