Canonical Allele Identifier: CA353094438

Gene: BAP1

Linked Data

• MyVariant Identifiers: chr3:g.52436410T>A (hg19) ; chr3:g.52402394T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402394T>A , CM000665.2:g.52402394T>A	GRCh38
NC_000003.11:g.52436410T>A , CM000665.1:g.52436410T>A	GRCh37
NC_000003.10:g.52411450T>A	NCBI36
NG_031859.1:g.12600A>T , LRG_529:g.12600A>T
NG_052911.1:g.91076T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2084A>T MANE Select	ENSP00000417132.1:p.Asn695Ile
ENST00000296288.9:c.2030A>T	ENSP00000296288.5:p.Asn677Ile
ENST00000460680.5:c.2084A>T	ENSP00000417132.1:p.Asn695Ile
ENST00000466093.1:n.757A>T
ENST00000469613.5:c.283A>T
ENST00000478368.1:c.656A>T	ENSP00000420647.1:p.Asn219Ile
NM_004656.3:c.2084A>T	NP_004647.1:p.Asn695Ile
XM_011534149.1:c.2153A>T	XP_011532451.1:p.Asn718Ile
XM_011534150.1:c.2108A>T	XP_011532452.1:p.Asn703Ile
XM_011534151.1:c.2099A>T	XP_011532453.1:p.Asn700Ile
XM_011534152.1:c.2039A>T	XP_011532454.1:p.Asn680Ile
XM_011534149.3:c.2153A>T	XP_011532451.1:p.Asn718Ile
XM_011534150.3:c.2108A>T	XP_011532452.1:p.Asn703Ile
XM_011534151.3:c.2099A>T	XP_011532453.1:p.Asn700Ile
XM_011534152.2:c.2039A>T	XP_011532454.1:p.Asn680Ile
XM_017007303.2:c.2030A>T	XP_016862792.1:p.Asn677Ile
NM_004656.4:c.2084A>T MANE Select	NP_004647.1:p.Asn695Ile