Canonical Allele Identifier: CA2666009486
Gene: BAP1 HGNC NCBI

Linked Data

gnomAD v4: 3-52403334-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403334C>T , CM000665.2:g.52403334C>T GRCh38
NC_000003.11:g.52437350C>T , CM000665.1:g.52437350C>T GRCh37
NC_000003.10:g.52412390C>T NCBI36
NG_031859.1:g.11660G>A , LRG_529:g.11660G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1730-36G>A MANE Select ENSP00000417132.1:n.1730-36G>A
ENST00000296288.9:c.1676-36G>A ENSP00000296288.5:n.1676-36G>A
ENST00000460680.5:c.1730-36G>A ENSP00000417132.1:n.1730-36G>A
ENST00000466093.1:n.137-36G>A
ENST00000469613.5:c.119+467G>A
ENST00000478368.1:c.233-36G>A ENSP00000420647.1:n.233-36G>A
NM_004656.3:c.1730-36G>A NP_004647.1:n.1730-36G>A
XM_011534149.1:c.1730-36G>A XP_011532451.1:n.1730-36G>A
XM_011534150.1:c.1730-36G>A XP_011532452.1:n.1730-36G>A
XM_011534151.1:c.1676-36G>A XP_011532453.1:n.1676-36G>A
XM_011534152.1:c.1730-36G>A XP_011532454.1:n.1730-36G>A
XM_011534149.3:c.1730-36G>A XP_011532451.1:n.1730-36G>A
XM_011534150.3:c.1730-36G>A XP_011532452.1:n.1730-36G>A
XM_011534151.3:c.1676-36G>A XP_011532453.1:n.1676-36G>A
XM_011534152.2:c.1730-36G>A XP_011532454.1:n.1730-36G>A
XM_017007303.2:c.1676-36G>A XP_016862792.1:n.1676-36G>A
NM_004656.4:c.1730-36G>A MANE Select NP_004647.1:n.1730-36G>A