Canonical Allele Identifier: CA2436791

Gene: BAP1

Linked Data

• ClinVar Variation Id: 961227
• ClinVar RCV Id: RCV001234886
• dbSNP Id: rs745959970
• ExAC: 3:52437654 A / G
• gnomAD v2: 3-52437654-A-G
• gnomAD v4: 3-52403638-A-G
• MyVariant Identifiers: chr3:g.52437654A>G (hg19) ; chr3:g.52403638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403638A>G , CM000665.2:g.52403638A>G	GRCh38
NC_000003.11:g.52437654A>G , CM000665.1:g.52437654A>G	GRCh37
NC_000003.10:g.52412694A>G	NCBI36
NG_031859.1:g.11356T>C , LRG_529:g.11356T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1507T>C MANE Select	ENSP00000417132.1:p.Phe503Leu
ENST00000296288.9:c.1453T>C	ENSP00000296288.5:p.Phe485Leu
ENST00000460680.5:c.1507T>C	ENSP00000417132.1:p.Phe503Leu
ENST00000469613.5:c.119+163T>C
ENST00000478368.1:c.10T>C	ENSP00000420647.1:p.Phe4Leu
NM_004656.3:c.1507T>C	NP_004647.1:p.Phe503Leu
XM_011534149.1:c.1507T>C	XP_011532451.1:p.Phe503Leu
XM_011534150.1:c.1507T>C	XP_011532452.1:p.Phe503Leu
XM_011534151.1:c.1453T>C	XP_011532453.1:p.Phe485Leu
XM_011534152.1:c.1507T>C	XP_011532454.1:p.Phe503Leu
XM_011534149.3:c.1507T>C	XP_011532451.1:p.Phe503Leu
XM_011534150.3:c.1507T>C	XP_011532452.1:p.Phe503Leu
XM_011534151.3:c.1453T>C	XP_011532453.1:p.Phe485Leu
XM_011534152.2:c.1507T>C	XP_011532454.1:p.Phe503Leu
XM_017007303.2:c.1453T>C	XP_016862792.1:p.Phe485Leu
NM_004656.4:c.1507T>C MANE Select	NP_004647.1:p.Phe503Leu