Canonical Allele Identifier: CA353094294

Gene: BAP1

Linked Data

• gnomAD v4: 3-52402364-C-A
• MyVariant Identifiers: chr3:g.52436380C>A (hg19) ; chr3:g.52402364C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402364C>A , CM000665.2:g.52402364C>A	GRCh38
NC_000003.11:g.52436380C>A , CM000665.1:g.52436380C>A	GRCh37
NC_000003.10:g.52411420C>A	NCBI36
NG_031859.1:g.12630G>T , LRG_529:g.12630G>T
NG_052911.1:g.91046C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2114G>T MANE Select	ENSP00000417132.1:p.Ser705Ile
ENST00000296288.9:c.2060G>T	ENSP00000296288.5:p.Ser687Ile
ENST00000460680.5:c.2114G>T	ENSP00000417132.1:p.Ser705Ile
ENST00000466093.1:n.787G>T
ENST00000469613.5:c.313G>T
ENST00000478368.1:c.686G>T	ENSP00000420647.1:p.Ser229Ile
NM_004656.3:c.2114G>T	NP_004647.1:p.Ser705Ile
XM_011534149.1:c.2183G>T	XP_011532451.1:p.Ser728Ile
XM_011534150.1:c.2138G>T	XP_011532452.1:p.Ser713Ile
XM_011534151.1:c.2129G>T	XP_011532453.1:p.Ser710Ile
XM_011534152.1:c.2069G>T	XP_011532454.1:p.Ser690Ile
XM_011534149.3:c.2183G>T	XP_011532451.1:p.Ser728Ile
XM_011534150.3:c.2138G>T	XP_011532452.1:p.Ser713Ile
XM_011534151.3:c.2129G>T	XP_011532453.1:p.Ser710Ile
XM_011534152.2:c.2069G>T	XP_011532454.1:p.Ser690Ile
XM_017007303.2:c.2060G>T	XP_016862792.1:p.Ser687Ile
NM_004656.4:c.2114G>T MANE Select	NP_004647.1:p.Ser705Ile