Canonical Allele Identifier: CA2436624

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1388702
• ClinVar RCV Id: RCV001878024 ; RCV004039085
• dbSNP Id: rs773857745
• ExAC: 3:52436689 A / G
• gnomAD v2: 3-52436689-A-G
• gnomAD v4: 3-52402673-A-G
• MyVariant Identifiers: chr3:g.52436689A>G (hg19) ; chr3:g.52402673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402673A>G , CM000665.2:g.52402673A>G	GRCh38
NC_000003.11:g.52436689A>G , CM000665.1:g.52436689A>G	GRCh37
NC_000003.10:g.52411729A>G	NCBI36
NG_031859.1:g.12321T>C , LRG_529:g.12321T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1985T>C MANE Select	ENSP00000417132.1:p.Ile662Thr
ENST00000296288.9:c.1931T>C	ENSP00000296288.5:p.Ile644Thr
ENST00000460680.5:c.1985T>C	ENSP00000417132.1:p.Ile662Thr
ENST00000466093.1:n.658T>C
ENST00000469613.5:c.184T>C
ENST00000478368.1:c.557T>C	ENSP00000420647.1:p.Ile186Thr
NM_004656.3:c.1985T>C	NP_004647.1:p.Ile662Thr
XM_011534149.1:c.2054T>C	XP_011532451.1:p.Ile685Thr
XM_011534150.1:c.2009T>C	XP_011532452.1:p.Ile670Thr
XM_011534151.1:c.2000T>C	XP_011532453.1:p.Ile667Thr
XM_011534152.1:c.1940T>C	XP_011532454.1:p.Ile647Thr
XM_011534149.3:c.2054T>C	XP_011532451.1:p.Ile685Thr
XM_011534150.3:c.2009T>C	XP_011532452.1:p.Ile670Thr
XM_011534151.3:c.2000T>C	XP_011532453.1:p.Ile667Thr
XM_011534152.2:c.1940T>C	XP_011532454.1:p.Ile647Thr
XM_017007303.2:c.1931T>C	XP_016862792.1:p.Ile644Thr
NM_004656.4:c.1985T>C MANE Select	NP_004647.1:p.Ile662Thr