Canonical Allele Identifier: CA433886162
Gene: BAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1481899
dbSNP Id: rs1705029620
MyVariant Identifiers: chr3:g.52437313C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403297C>T , CM000665.2:g.52403297C>T GRCh38
NC_000003.11:g.52437313C>T , CM000665.1:g.52437313C>T GRCh37
NC_000003.10:g.52412353C>T NCBI36
NG_031859.1:g.11697G>A , LRG_529:g.11697G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1731G>A MANE Select ENSP00000417132.1:p.Glu577=
ENST00000296288.9:c.1677G>A ENSP00000296288.5:p.Glu559=
ENST00000460680.5:c.1731G>A ENSP00000417132.1:p.Glu577=
ENST00000466093.1:n.138G>A
ENST00000469613.5:c.120-456G>A
ENST00000478368.1:c.234G>A ENSP00000420647.1:p.Glu78=
NM_004656.3:c.1731G>A NP_004647.1:p.Glu577=
XM_011534149.1:c.1731G>A XP_011532451.1:p.Glu577=
XM_011534150.1:c.1731G>A XP_011532452.1:p.Glu577=
XM_011534151.1:c.1677G>A XP_011532453.1:p.Glu559=
XM_011534152.1:c.1731G>A XP_011532454.1:p.Glu577=
XM_011534149.3:c.1731G>A XP_011532451.1:p.Glu577=
XM_011534150.3:c.1731G>A XP_011532452.1:p.Glu577=
XM_011534151.3:c.1677G>A XP_011532453.1:p.Glu559=
XM_011534152.2:c.1731G>A XP_011532454.1:p.Glu577=
XM_017007303.2:c.1677G>A XP_016862792.1:p.Glu559=
NM_004656.4:c.1731G>A MANE Select NP_004647.1:p.Glu577=