Canonical Allele Identifier: CA353094454

Gene: BAP1

Linked Data

• MyVariant Identifiers: chr3:g.52436413T>A (hg19) ; chr3:g.52402397T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402397T>A , CM000665.2:g.52402397T>A	GRCh38
NC_000003.11:g.52436413T>A , CM000665.1:g.52436413T>A	GRCh37
NC_000003.10:g.52411453T>A	NCBI36
NG_031859.1:g.12597A>T , LRG_529:g.12597A>T
NG_052911.1:g.91079T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2081A>T MANE Select	ENSP00000417132.1:p.Gln694Leu
ENST00000296288.9:c.2027A>T	ENSP00000296288.5:p.Gln676Leu
ENST00000460680.5:c.2081A>T	ENSP00000417132.1:p.Gln694Leu
ENST00000466093.1:n.754A>T
ENST00000469613.5:c.280A>T
ENST00000478368.1:c.653A>T	ENSP00000420647.1:p.Gln218Leu
NM_004656.3:c.2081A>T	NP_004647.1:p.Gln694Leu
XM_011534149.1:c.2150A>T	XP_011532451.1:p.Gln717Leu
XM_011534150.1:c.2105A>T	XP_011532452.1:p.Gln702Leu
XM_011534151.1:c.2096A>T	XP_011532453.1:p.Gln699Leu
XM_011534152.1:c.2036A>T	XP_011532454.1:p.Gln679Leu
XM_011534149.3:c.2150A>T	XP_011532451.1:p.Gln717Leu
XM_011534150.3:c.2105A>T	XP_011532452.1:p.Gln702Leu
XM_011534151.3:c.2096A>T	XP_011532453.1:p.Gln699Leu
XM_011534152.2:c.2036A>T	XP_011532454.1:p.Gln679Leu
XM_017007303.2:c.2027A>T	XP_016862792.1:p.Gln676Leu
NM_004656.4:c.2081A>T MANE Select	NP_004647.1:p.Gln694Leu