Canonical Allele Identifier: CA433886006
Gene: BAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52436397C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402381C>G , CM000665.2:g.52402381C>G GRCh38
NC_000003.11:g.52436397C>G , CM000665.1:g.52436397C>G GRCh37
NC_000003.10:g.52411437C>G NCBI36
NG_031859.1:g.12613G>C , LRG_529:g.12613G>C
NG_052911.1:g.91063C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.2097G>C MANE Select ENSP00000417132.1:p.Arg699=
ENST00000296288.9:c.2043G>C ENSP00000296288.5:p.Arg681=
ENST00000460680.5:c.2097G>C ENSP00000417132.1:p.Arg699=
ENST00000466093.1:n.770G>C
ENST00000469613.5:c.296G>C
ENST00000478368.1:c.669G>C ENSP00000420647.1:p.Arg223=
NM_004656.3:c.2097G>C NP_004647.1:p.Arg699=
XM_011534149.1:c.2166G>C XP_011532451.1:p.Arg722=
XM_011534150.1:c.2121G>C XP_011532452.1:p.Arg707=
XM_011534151.1:c.2112G>C XP_011532453.1:p.Arg704=
XM_011534152.1:c.2052G>C XP_011532454.1:p.Arg684=
XM_011534149.3:c.2166G>C XP_011532451.1:p.Arg722=
XM_011534150.3:c.2121G>C XP_011532452.1:p.Arg707=
XM_011534151.3:c.2112G>C XP_011532453.1:p.Arg704=
XM_011534152.2:c.2052G>C XP_011532454.1:p.Arg684=
XM_017007303.2:c.2043G>C XP_016862792.1:p.Arg681=
NM_004656.4:c.2097G>C MANE Select NP_004647.1:p.Arg699=