Canonical Allele Identifier: CA353098055
Gene: BAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2153226445

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403162C>A , CM000665.2:g.52403162C>A GRCh38
NC_000003.11:g.52437178C>A , CM000665.1:g.52437178C>A GRCh37
NC_000003.10:g.52412218C>A NCBI36
NG_031859.1:g.11832G>T , LRG_529:g.11832G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1866G>T MANE Select ENSP00000417132.1:p.Leu622Phe
ENST00000296288.9:c.1812G>T ENSP00000296288.5:p.Leu604Phe
ENST00000460680.5:c.1866G>T ENSP00000417132.1:p.Leu622Phe
ENST00000466093.1:n.273G>T
ENST00000469613.5:c.120-321G>T
ENST00000478368.1:c.369G>T ENSP00000420647.1:p.Leu123Phe
NM_004656.3:c.1866G>T NP_004647.1:p.Leu622Phe
XM_011534149.1:c.1866G>T XP_011532451.1:p.Leu622Phe
XM_011534150.1:c.1845+21G>T XP_011532452.1:n.1845+21G>T
XM_011534151.1:c.1812G>T XP_011532453.1:p.Leu604Phe
XM_011534152.1:c.1845+21G>T XP_011532454.1:n.1845+21G>T
XM_011534149.3:c.1866G>T XP_011532451.1:p.Leu622Phe
XM_011534150.3:c.1845+21G>T XP_011532452.1:n.1845+21G>T
XM_011534151.3:c.1812G>T XP_011532453.1:p.Leu604Phe
XM_011534152.2:c.1845+21G>T XP_011532454.1:n.1845+21G>T
XM_017007303.2:c.1812G>T XP_016862792.1:p.Leu604Phe
NM_004656.4:c.1866G>T MANE Select NP_004647.1:p.Leu622Phe