Canonical Allele Identifier: CA433886116
Gene: BAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2153226517
MyVariant Identifiers: chr3:g.52437301A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403285A>G , CM000665.2:g.52403285A>G GRCh38
NC_000003.11:g.52437301A>G , CM000665.1:g.52437301A>G GRCh37
NC_000003.10:g.52412341A>G NCBI36
NG_031859.1:g.11709T>C , LRG_529:g.11709T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1743T>C MANE Select ENSP00000417132.1:p.Gly581=
ENST00000296288.9:c.1689T>C ENSP00000296288.5:p.Gly563=
ENST00000460680.5:c.1743T>C ENSP00000417132.1:p.Gly581=
ENST00000466093.1:n.150T>C
ENST00000469613.5:c.120-444T>C
ENST00000478368.1:c.246T>C ENSP00000420647.1:p.Gly82=
NM_004656.3:c.1743T>C NP_004647.1:p.Gly581=
XM_011534149.1:c.1743T>C XP_011532451.1:p.Gly581=
XM_011534150.1:c.1743T>C XP_011532452.1:p.Gly581=
XM_011534151.1:c.1689T>C XP_011532453.1:p.Gly563=
XM_011534152.1:c.1743T>C XP_011532454.1:p.Gly581=
XM_011534149.3:c.1743T>C XP_011532451.1:p.Gly581=
XM_011534150.3:c.1743T>C XP_011532452.1:p.Gly581=
XM_011534151.3:c.1689T>C XP_011532453.1:p.Gly563=
XM_011534152.2:c.1743T>C XP_011532454.1:p.Gly581=
XM_017007303.2:c.1689T>C XP_016862792.1:p.Gly563=
NM_004656.4:c.1743T>C MANE Select NP_004647.1:p.Gly581=