Canonical Allele Identifier: CA353102218

Gene: BAP1

Linked Data

• COSMIC: COSM1732101
• MyVariant Identifiers: chr3:g.52437855G>A (hg19) ; chr3:g.52403839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403839G>A , CM000665.2:g.52403839G>A	GRCh38
NC_000003.11:g.52437855G>A , CM000665.1:g.52437855G>A	GRCh37
NC_000003.10:g.52412895G>A	NCBI36
NG_031859.1:g.11155C>T , LRG_529:g.11155C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1306C>T MANE Select	ENSP00000417132.1:p.Gln436Ter
ENST00000296288.9:c.1252C>T	ENSP00000296288.5:p.Gln418Ter
ENST00000460680.5:c.1306C>T	ENSP00000417132.1:p.Gln436Ter
ENST00000469613.5:c.81C>T
ENST00000490804.1:n.734C>T
NM_004656.3:c.1306C>T	NP_004647.1:p.Gln436Ter
XM_011534149.1:c.1306C>T	XP_011532451.1:p.Gln436Ter
XM_011534150.1:c.1306C>T	XP_011532452.1:p.Gln436Ter
XM_011534151.1:c.1252C>T	XP_011532453.1:p.Gln418Ter
XM_011534152.1:c.1306C>T	XP_011532454.1:p.Gln436Ter
XM_011534149.3:c.1306C>T	XP_011532451.1:p.Gln436Ter
XM_011534150.3:c.1306C>T	XP_011532452.1:p.Gln436Ter
XM_011534151.3:c.1252C>T	XP_011532453.1:p.Gln418Ter
XM_011534152.2:c.1306C>T	XP_011532454.1:p.Gln436Ter
XM_017007303.2:c.1252C>T	XP_016862792.1:p.Gln418Ter
NM_004656.4:c.1306C>T MANE Select	NP_004647.1:p.Gln436Ter