Canonical Allele Identifier: CA2702823527
Gene: BAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2153226417

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403117A>G , CM000665.2:g.52403117A>G GRCh38
NC_000003.11:g.52437133A>G , CM000665.1:g.52437133A>G GRCh37
NC_000003.10:g.52412173A>G NCBI36
NG_031859.1:g.11877T>C , LRG_529:g.11877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1890+21T>C MANE Select ENSP00000417132.1:n.1890+21T>C
ENST00000296288.9:c.1836+21T>C ENSP00000296288.5:n.1836+21T>C
ENST00000460680.5:c.1890+21T>C ENSP00000417132.1:n.1890+21T>C
ENST00000466093.1:n.318T>C
ENST00000469613.5:c.120-276T>C
ENST00000478368.1:c.393+21T>C ENSP00000420647.1:n.393+21T>C
NM_004656.3:c.1890+21T>C NP_004647.1:n.1890+21T>C
XM_011534149.1:c.1890+21T>C XP_011532451.1:n.1890+21T>C
XM_011534150.1:c.1845+66T>C XP_011532452.1:n.1845+66T>C
XM_011534151.1:c.1836+21T>C XP_011532453.1:n.1836+21T>C
XM_011534152.1:c.1845+66T>C XP_011532454.1:n.1845+66T>C
XM_011534149.3:c.1890+21T>C XP_011532451.1:n.1890+21T>C
XM_011534150.3:c.1845+66T>C XP_011532452.1:n.1845+66T>C
XM_011534151.3:c.1836+21T>C XP_011532453.1:n.1836+21T>C
XM_011534152.2:c.1845+66T>C XP_011532454.1:n.1845+66T>C
XM_017007303.2:c.1836+21T>C XP_016862792.1:n.1836+21T>C
NM_004656.4:c.1890+21T>C MANE Select NP_004647.1:n.1890+21T>C