Canonical Allele Identifier: CA433886211
Gene: BAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52437658A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403642A>G , CM000665.2:g.52403642A>G GRCh38
NC_000003.11:g.52437658A>G , CM000665.1:g.52437658A>G GRCh37
NC_000003.10:g.52412698A>G NCBI36
NG_031859.1:g.11352T>C , LRG_529:g.11352T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000460680.6:c.1503T>C MANE Select ENSP00000417132.1:p.Ser501=
ENST00000296288.9:c.1449T>C ENSP00000296288.5:p.Ser483=
ENST00000460680.5:c.1503T>C ENSP00000417132.1:p.Ser501=
ENST00000469613.5:c.119+159T>C
ENST00000478368.1:c.6T>C ENSP00000420647.1:p.Ser2=
NM_004656.3:c.1503T>C NP_004647.1:p.Ser501=
XM_011534149.1:c.1503T>C XP_011532451.1:p.Ser501=
XM_011534150.1:c.1503T>C XP_011532452.1:p.Ser501=
XM_011534151.1:c.1449T>C XP_011532453.1:p.Ser483=
XM_011534152.1:c.1503T>C XP_011532454.1:p.Ser501=
XM_011534149.3:c.1503T>C XP_011532451.1:p.Ser501=
XM_011534150.3:c.1503T>C XP_011532452.1:p.Ser501=
XM_011534151.3:c.1449T>C XP_011532453.1:p.Ser483=
XM_011534152.2:c.1503T>C XP_011532454.1:p.Ser501=
XM_017007303.2:c.1449T>C XP_016862792.1:p.Ser483=
NM_004656.4:c.1503T>C MANE Select NP_004647.1:p.Ser501=