Canonical Allele Identifier: CA353094503

Gene: BAP1

Linked Data

• gnomAD v4: 3-52402404-C-A
• MyVariant Identifiers: chr3:g.52436420C>A (hg19) ; chr3:g.52402404C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402404C>A , CM000665.2:g.52402404C>A	GRCh38
NC_000003.11:g.52436420C>A , CM000665.1:g.52436420C>A	GRCh37
NC_000003.10:g.52411460C>A	NCBI36
NG_031859.1:g.12590G>T , LRG_529:g.12590G>T
NG_052911.1:g.91086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2074G>T MANE Select	ENSP00000417132.1:p.Val692Leu
ENST00000296288.9:c.2020G>T	ENSP00000296288.5:p.Val674Leu
ENST00000460680.5:c.2074G>T	ENSP00000417132.1:p.Val692Leu
ENST00000466093.1:n.747G>T
ENST00000469613.5:c.273G>T
ENST00000478368.1:c.646G>T	ENSP00000420647.1:p.Val216Leu
NM_004656.3:c.2074G>T	NP_004647.1:p.Val692Leu
XM_011534149.1:c.2143G>T	XP_011532451.1:p.Val715Leu
XM_011534150.1:c.2098G>T	XP_011532452.1:p.Val700Leu
XM_011534151.1:c.2089G>T	XP_011532453.1:p.Val697Leu
XM_011534152.1:c.2029G>T	XP_011532454.1:p.Val677Leu
XM_011534149.3:c.2143G>T	XP_011532451.1:p.Val715Leu
XM_011534150.3:c.2098G>T	XP_011532452.1:p.Val700Leu
XM_011534151.3:c.2089G>T	XP_011532453.1:p.Val697Leu
XM_011534152.2:c.2029G>T	XP_011532454.1:p.Val677Leu
XM_017007303.2:c.2020G>T	XP_016862792.1:p.Val674Leu
NM_004656.4:c.2074G>T MANE Select	NP_004647.1:p.Val692Leu