Canonical Allele Identifier: CA433885973
Gene: BAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52437259G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403243G>T , CM000665.2:g.52403243G>T GRCh38
NC_000003.11:g.52437259G>T , CM000665.1:g.52437259G>T GRCh37
NC_000003.10:g.52412299G>T NCBI36
NG_031859.1:g.11751C>A , LRG_529:g.11751C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1785C>A MANE Select ENSP00000417132.1:p.Ser595=
ENST00000296288.9:c.1731C>A ENSP00000296288.5:p.Ser577=
ENST00000460680.5:c.1785C>A ENSP00000417132.1:p.Ser595=
ENST00000466093.1:n.192C>A
ENST00000469613.5:c.120-402C>A
ENST00000478368.1:c.288C>A ENSP00000420647.1:p.Ser96=
NM_004656.3:c.1785C>A NP_004647.1:p.Ser595=
XM_011534149.1:c.1785C>A XP_011532451.1:p.Ser595=
XM_011534150.1:c.1785C>A XP_011532452.1:p.Ser595=
XM_011534151.1:c.1731C>A XP_011532453.1:p.Ser577=
XM_011534152.1:c.1785C>A XP_011532454.1:p.Ser595=
XM_011534149.3:c.1785C>A XP_011532451.1:p.Ser595=
XM_011534150.3:c.1785C>A XP_011532452.1:p.Ser595=
XM_011534151.3:c.1731C>A XP_011532453.1:p.Ser577=
XM_011534152.2:c.1785C>A XP_011532454.1:p.Ser595=
XM_017007303.2:c.1731C>A XP_016862792.1:p.Ser577=
NM_004656.4:c.1785C>A MANE Select NP_004647.1:p.Ser595=