Canonical Allele Identifier: CA2436776
Gene: BAP1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52403593G>A
GRCh37 chr3:g.52437609G>A
Revel Score:
ENST00000460680 (MANE Select) 0.307
ENST00000296288 0.307
ENST00000478368 0.307
gnomAD v2:
3:52437609 G / A
gnomAD v3:
3:52403593 G / A
gnomAD v4:
chr3-52403593-G-A
Joint Max Group AF 0.00015388 (EAS)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00015498 (EAS)
ClinVar RCV:
RCV000461126
RCV000579418
ClinVar Variation:
412442
dbSNP:
775789477
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403593G>A , CM000665.2:g.52403593G>A GRCh38
NC_000003.11:g.52437609G>A , CM000665.1:g.52437609G>A GRCh37
NC_000003.10:g.52412649G>A NCBI36
NG_031859.1:g.11401C>T , LRG_529:g.11401C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1552C>T MANE Select ENSP00000417132.1:p.Arg518Trp
ENST00000296288.9:c.1498C>T ENSP00000296288.5:p.Arg500Trp
ENST00000460680.5:c.1552C>T ENSP00000417132.1:p.Arg518Trp
ENST00000469613.5:c.119+208C>T
ENST00000478368.1:c.55C>T ENSP00000420647.1:p.Arg19Trp
NM_004656.3:c.1552C>T NP_004647.1:p.Arg518Trp
XM_011534149.1:c.1552C>T XP_011532451.1:p.Arg518Trp
XM_011534150.1:c.1552C>T XP_011532452.1:p.Arg518Trp
XM_011534151.1:c.1498C>T XP_011532453.1:p.Arg500Trp
XM_011534152.1:c.1552C>T XP_011532454.1:p.Arg518Trp
XM_011534149.3:c.1552C>T XP_011532451.1:p.Arg518Trp
XM_011534150.3:c.1552C>T XP_011532452.1:p.Arg518Trp
XM_011534151.3:c.1498C>T XP_011532453.1:p.Arg500Trp
XM_011534152.2:c.1552C>T XP_011532454.1:p.Arg518Trp
XM_017007303.2:c.1498C>T XP_016862792.1:p.Arg500Trp
NM_004656.4:c.1552C>T MANE Select NP_004647.1:p.Arg518Trp
Search 100 bp 5'
Search 100 bp 3'