Canonical Allele Identifier: CA143983

Gene: BAP1

Linked Data

• ClinVar Variation Id: 55879
• ClinVar RCV Id: RCV002433548
• dbSNP Id: rs375129361
• gnomAD v2: 3-52442072-T-C
• COSMIC: COSM3824311
• MyVariant Identifiers: chr3:g.52442072T>C (hg19) ; chr3:g.52408056T>C (hg38)
• PubMed: PMID:23684012

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52408056T>C , CM000665.2:g.52408056T>C	GRCh38
NC_000003.11:g.52442072T>C , CM000665.1:g.52442072T>C	GRCh37
NC_000003.10:g.52417112T>C	NCBI36
NG_031859.1:g.6938A>G , LRG_529:g.6938A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.277A>G MANE Select	ENSP00000417132.1:p.Thr93Ala
ENST00000296288.9:c.277A>G	ENSP00000296288.5:p.Thr93Ala
ENST00000460680.5:c.277A>G	ENSP00000417132.1:p.Thr93Ala
ENST00000470173.1:c.40A>G	ENSP00000417776.1:p.Thr14Ala
ENST00000483984.5:n.277A>G
ENST00000490917.1:c.*18A>G	ENSP00000419709.1:n.*18A>G
NM_004656.3:c.277A>G	NP_004647.1:p.Thr93Ala
XM_011534149.1:c.277A>G	XP_011532451.1:p.Thr93Ala
XM_011534150.1:c.277A>G	XP_011532452.1:p.Thr93Ala
XM_011534151.1:c.277A>G	XP_011532453.1:p.Thr93Ala
XM_011534152.1:c.277A>G	XP_011532454.1:p.Thr93Ala
XM_011534149.3:c.277A>G	XP_011532451.1:p.Thr93Ala
XM_011534150.3:c.277A>G	XP_011532452.1:p.Thr93Ala
XM_011534151.3:c.277A>G	XP_011532453.1:p.Thr93Ala
XM_011534152.2:c.277A>G	XP_011532454.1:p.Thr93Ala
XM_017007303.2:c.277A>G	XP_016862792.1:p.Thr93Ala
NM_004656.4:c.277A>G MANE Select	NP_004647.1:p.Thr93Ala