Canonical Allele Identifier: CA433886332
Gene: BAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52437736A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403720A>T , CM000665.2:g.52403720A>T GRCh38
NC_000003.11:g.52437736A>T , CM000665.1:g.52437736A>T GRCh37
NC_000003.10:g.52412776A>T NCBI36
NG_031859.1:g.11274T>A , LRG_529:g.11274T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1425T>A MANE Select ENSP00000417132.1:p.Ala475=
ENST00000296288.9:c.1371T>A ENSP00000296288.5:p.Ala457=
ENST00000460680.5:c.1425T>A ENSP00000417132.1:p.Ala475=
ENST00000469613.5:c.119+81T>A
ENST00000490804.1:n.853T>A
NM_004656.3:c.1425T>A NP_004647.1:p.Ala475=
XM_011534149.1:c.1425T>A XP_011532451.1:p.Ala475=
XM_011534150.1:c.1425T>A XP_011532452.1:p.Ala475=
XM_011534151.1:c.1371T>A XP_011532453.1:p.Ala457=
XM_011534152.1:c.1425T>A XP_011532454.1:p.Ala475=
XM_011534149.3:c.1425T>A XP_011532451.1:p.Ala475=
XM_011534150.3:c.1425T>A XP_011532452.1:p.Ala475=
XM_011534151.3:c.1371T>A XP_011532453.1:p.Ala457=
XM_011534152.2:c.1425T>A XP_011532454.1:p.Ala475=
XM_017007303.2:c.1371T>A XP_016862792.1:p.Ala457=
NM_004656.4:c.1425T>A MANE Select NP_004647.1:p.Ala475=