Canonical Allele Identifier: CA2666008206
Gene: BAP1 HGNC NCBI

Linked Data

gnomAD v4: 3-52402961-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52402961C>A , CM000665.2:g.52402961C>A GRCh38
NC_000003.11:g.52436977C>A , CM000665.1:g.52436977C>A GRCh37
NC_000003.10:g.52412017C>A NCBI36
NG_031859.1:g.12033G>T , LRG_529:g.12033G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1891-90G>T MANE Select ENSP00000417132.1:n.1891-90G>T
ENST00000296288.9:c.1837-90G>T ENSP00000296288.5:n.1837-90G>T
ENST00000460680.5:c.1891-90G>T ENSP00000417132.1:n.1891-90G>T
ENST00000466093.1:n.474G>T
ENST00000469613.5:c.120-120G>T
ENST00000478368.1:c.394-21G>T ENSP00000420647.1:n.394-21G>T
NM_004656.3:c.1891-90G>T NP_004647.1:n.1891-90G>T
XM_011534149.1:c.1891-21G>T XP_011532451.1:n.1891-21G>T
XM_011534150.1:c.1846-21G>T XP_011532452.1:n.1846-21G>T
XM_011534151.1:c.1837-21G>T XP_011532453.1:n.1837-21G>T
XM_011534152.1:c.1846-90G>T XP_011532454.1:n.1846-90G>T
XM_011534149.3:c.1891-21G>T XP_011532451.1:n.1891-21G>T
XM_011534150.3:c.1846-21G>T XP_011532452.1:n.1846-21G>T
XM_011534151.3:c.1837-21G>T XP_011532453.1:n.1837-21G>T
XM_011534152.2:c.1846-90G>T XP_011532454.1:n.1846-90G>T
XM_017007303.2:c.1837-90G>T XP_016862792.1:n.1837-90G>T
NM_004656.4:c.1891-90G>T MANE Select NP_004647.1:n.1891-90G>T