Canonical Allele Identifier: CA353099810

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226591
• MyVariant Identifiers: chr3:g.52437470A>T (hg19) ; chr3:g.52403454A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403454A>T , CM000665.2:g.52403454A>T	GRCh38
NC_000003.11:g.52437470A>T , CM000665.1:g.52437470A>T	GRCh37
NC_000003.10:g.52412510A>T	NCBI36
NG_031859.1:g.11540T>A , LRG_529:g.11540T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1691T>A MANE Select	ENSP00000417132.1:p.Leu564Gln
ENST00000296288.9:c.1637T>A	ENSP00000296288.5:p.Leu546Gln
ENST00000460680.5:c.1691T>A	ENSP00000417132.1:p.Leu564Gln
ENST00000466093.1:n.98T>A
ENST00000469613.5:c.119+347T>A
ENST00000478368.1:c.194T>A	ENSP00000420647.1:p.Leu65Gln
NM_004656.3:c.1691T>A	NP_004647.1:p.Leu564Gln
XM_011534149.1:c.1691T>A	XP_011532451.1:p.Leu564Gln
XM_011534150.1:c.1691T>A	XP_011532452.1:p.Leu564Gln
XM_011534151.1:c.1637T>A	XP_011532453.1:p.Leu546Gln
XM_011534152.1:c.1691T>A	XP_011532454.1:p.Leu564Gln
XM_011534149.3:c.1691T>A	XP_011532451.1:p.Leu564Gln
XM_011534150.3:c.1691T>A	XP_011532452.1:p.Leu564Gln
XM_011534151.3:c.1637T>A	XP_011532453.1:p.Leu546Gln
XM_011534152.2:c.1691T>A	XP_011532454.1:p.Leu564Gln
XM_017007303.2:c.1637T>A	XP_016862792.1:p.Leu546Gln
NM_004656.4:c.1691T>A MANE Select	NP_004647.1:p.Leu564Gln