Canonical Allele Identifier: CA433885801
Gene: BAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 795773
dbSNP Id: rs375950004
gnomAD v2: 3-52437172-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403156C>G , CM000665.2:g.52403156C>G GRCh38
NC_000003.11:g.52437172C>G , CM000665.1:g.52437172C>G GRCh37
NC_000003.10:g.52412212C>G NCBI36
NG_031859.1:g.11838G>C , LRG_529:g.11838G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1872G>C MANE Select ENSP00000417132.1:p.Gly624=
ENST00000296288.9:c.1818G>C ENSP00000296288.5:p.Gly606=
ENST00000460680.5:c.1872G>C ENSP00000417132.1:p.Gly624=
ENST00000466093.1:n.279G>C
ENST00000469613.5:c.120-315G>C
ENST00000478368.1:c.375G>C ENSP00000420647.1:p.Gly125=
NM_004656.3:c.1872G>C NP_004647.1:p.Gly624=
XM_011534149.1:c.1872G>C XP_011532451.1:p.Gly624=
XM_011534150.1:c.1845+27G>C XP_011532452.1:n.1845+27G>C
XM_011534151.1:c.1818G>C XP_011532453.1:p.Gly606=
XM_011534152.1:c.1845+27G>C XP_011532454.1:n.1845+27G>C
XM_011534149.3:c.1872G>C XP_011532451.1:p.Gly624=
XM_011534150.3:c.1845+27G>C XP_011532452.1:n.1845+27G>C
XM_011534151.3:c.1818G>C XP_011532453.1:p.Gly606=
XM_011534152.2:c.1845+27G>C XP_011532454.1:n.1845+27G>C
XM_017007303.2:c.1818G>C XP_016862792.1:p.Gly606=
NM_004656.4:c.1872G>C MANE Select NP_004647.1:p.Gly624=