Canonical Allele Identifier: CA433885903
Gene: BAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52437216T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403200T>G , CM000665.2:g.52403200T>G GRCh38
NC_000003.11:g.52437216T>G , CM000665.1:g.52437216T>G GRCh37
NC_000003.10:g.52412256T>G NCBI36
NG_031859.1:g.11794A>C , LRG_529:g.11794A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000460680.6:c.1828A>C MANE Select ENSP00000417132.1:p.Arg610=
ENST00000296288.9:c.1774A>C ENSP00000296288.5:p.Arg592=
ENST00000460680.5:c.1828A>C ENSP00000417132.1:p.Arg610=
ENST00000466093.1:n.235A>C
ENST00000469613.5:c.120-359A>C
ENST00000478368.1:c.331A>C ENSP00000420647.1:p.Arg111=
NM_004656.3:c.1828A>C NP_004647.1:p.Arg610=
XM_011534149.1:c.1828A>C XP_011532451.1:p.Arg610=
XM_011534150.1:c.1828A>C XP_011532452.1:p.Arg610=
XM_011534151.1:c.1774A>C XP_011532453.1:p.Arg592=
XM_011534152.1:c.1828A>C XP_011532454.1:p.Arg610=
XM_011534149.3:c.1828A>C XP_011532451.1:p.Arg610=
XM_011534150.3:c.1828A>C XP_011532452.1:p.Arg610=
XM_011534151.3:c.1774A>C XP_011532453.1:p.Arg592=
XM_011534152.2:c.1828A>C XP_011532454.1:p.Arg610=
XM_017007303.2:c.1774A>C XP_016862792.1:p.Arg592=
NM_004656.4:c.1828A>C MANE Select NP_004647.1:p.Arg610=