Canonical Allele Identifier: CA2666008341
Gene: BAP1 HGNC NCBI

Linked Data

gnomAD v4: 3-52403003-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403003A>C , CM000665.2:g.52403003A>C GRCh38
NC_000003.11:g.52437019A>C , CM000665.1:g.52437019A>C GRCh37
NC_000003.10:g.52412059A>C NCBI36
NG_031859.1:g.11991T>G , LRG_529:g.11991T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1891-132T>G MANE Select ENSP00000417132.1:n.1891-132T>G
ENST00000296288.9:c.1837-132T>G ENSP00000296288.5:n.1837-132T>G
ENST00000460680.5:c.1891-132T>G ENSP00000417132.1:n.1891-132T>G
ENST00000466093.1:n.432T>G
ENST00000469613.5:c.120-162T>G
ENST00000478368.1:c.394-63T>G ENSP00000420647.1:n.394-63T>G
NM_004656.3:c.1891-132T>G NP_004647.1:n.1891-132T>G
XM_011534149.1:c.1891-63T>G XP_011532451.1:n.1891-63T>G
XM_011534150.1:c.1846-63T>G XP_011532452.1:n.1846-63T>G
XM_011534151.1:c.1837-63T>G XP_011532453.1:n.1837-63T>G
XM_011534152.1:c.1846-132T>G XP_011532454.1:n.1846-132T>G
XM_011534149.3:c.1891-63T>G XP_011532451.1:n.1891-63T>G
XM_011534150.3:c.1846-63T>G XP_011532452.1:n.1846-63T>G
XM_011534151.3:c.1837-63T>G XP_011532453.1:n.1837-63T>G
XM_011534152.2:c.1846-132T>G XP_011532454.1:n.1846-132T>G
XM_017007303.2:c.1837-132T>G XP_016862792.1:n.1837-132T>G
NM_004656.4:c.1891-132T>G MANE Select NP_004647.1:n.1891-132T>G