Canonical Allele Identifier: CA353096310

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226211
• gnomAD v4: 3-52402650-T-C
• MyVariant Identifiers: chr3:g.52436666T>C (hg19) ; chr3:g.52402650T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402650T>C , CM000665.2:g.52402650T>C	GRCh38
NC_000003.11:g.52436666T>C , CM000665.1:g.52436666T>C	GRCh37
NC_000003.10:g.52411706T>C	NCBI36
NG_031859.1:g.12344A>G , LRG_529:g.12344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2008A>G MANE Select	ENSP00000417132.1:p.Asn670Asp
ENST00000296288.9:c.1954A>G	ENSP00000296288.5:p.Asn652Asp
ENST00000460680.5:c.2008A>G	ENSP00000417132.1:p.Asn670Asp
ENST00000466093.1:n.681A>G
ENST00000469613.5:c.207A>G
ENST00000478368.1:c.580A>G	ENSP00000420647.1:p.Asn194Asp
NM_004656.3:c.2008A>G	NP_004647.1:p.Asn670Asp
XM_011534149.1:c.2077A>G	XP_011532451.1:p.Asn693Asp
XM_011534150.1:c.2032A>G	XP_011532452.1:p.Asn678Asp
XM_011534151.1:c.2023A>G	XP_011532453.1:p.Asn675Asp
XM_011534152.1:c.1963A>G	XP_011532454.1:p.Asn655Asp
XM_011534149.3:c.2077A>G	XP_011532451.1:p.Asn693Asp
XM_011534150.3:c.2032A>G	XP_011532452.1:p.Asn678Asp
XM_011534151.3:c.2023A>G	XP_011532453.1:p.Asn675Asp
XM_011534152.2:c.1963A>G	XP_011532454.1:p.Asn655Asp
XM_017007303.2:c.1954A>G	XP_016862792.1:p.Asn652Asp
NM_004656.4:c.2008A>G MANE Select	NP_004647.1:p.Asn670Asp