Canonical Allele Identifier: CA353099214
Gene: BAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 489625
ClinVar RCV Id: RCV000580478
dbSNP Id: rs1553644741

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403274G>T , CM000665.2:g.52403274G>T GRCh38
NC_000003.11:g.52437290G>T , CM000665.1:g.52437290G>T GRCh37
NC_000003.10:g.52412330G>T NCBI36
NG_031859.1:g.11720C>A , LRG_529:g.11720C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1754C>A MANE Select ENSP00000417132.1:p.Ser585Tyr
ENST00000296288.9:c.1700C>A ENSP00000296288.5:p.Ser567Tyr
ENST00000460680.5:c.1754C>A ENSP00000417132.1:p.Ser585Tyr
ENST00000466093.1:n.161C>A
ENST00000469613.5:c.120-433C>A
ENST00000478368.1:c.257C>A ENSP00000420647.1:p.Ser86Tyr
NM_004656.3:c.1754C>A NP_004647.1:p.Ser585Tyr
XM_011534149.1:c.1754C>A XP_011532451.1:p.Ser585Tyr
XM_011534150.1:c.1754C>A XP_011532452.1:p.Ser585Tyr
XM_011534151.1:c.1700C>A XP_011532453.1:p.Ser567Tyr
XM_011534152.1:c.1754C>A XP_011532454.1:p.Ser585Tyr
XM_011534149.3:c.1754C>A XP_011532451.1:p.Ser585Tyr
XM_011534150.3:c.1754C>A XP_011532452.1:p.Ser585Tyr
XM_011534151.3:c.1700C>A XP_011532453.1:p.Ser567Tyr
XM_011534152.2:c.1754C>A XP_011532454.1:p.Ser585Tyr
XM_017007303.2:c.1700C>A XP_016862792.1:p.Ser567Tyr
NM_004656.4:c.1754C>A MANE Select NP_004647.1:p.Ser585Tyr