Canonical Allele Identifier: CA433885997

Gene: BAP1

Linked Data

• dbSNP Id: rs2153226635
• gnomAD v4: 3-52403525-A-G
• MyVariant Identifiers: chr3:g.52437541A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403525A>G , CM000665.2:g.52403525A>G	GRCh38
NC_000003.11:g.52437541A>G , CM000665.1:g.52437541A>G	GRCh37
NC_000003.10:g.52412581A>G	NCBI36
NG_031859.1:g.11469T>C , LRG_529:g.11469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1620T>C MANE Select	ENSP00000417132.1:p.Arg540=
ENST00000296288.9:c.1566T>C	ENSP00000296288.5:p.Arg522=
ENST00000460680.5:c.1620T>C	ENSP00000417132.1:p.Arg540=
ENST00000466093.1:n.27T>C
ENST00000469613.5:c.119+276T>C
ENST00000478368.1:c.123T>C	ENSP00000420647.1:p.Arg41=
NM_004656.3:c.1620T>C	NP_004647.1:p.Arg540=
XM_011534149.1:c.1620T>C	XP_011532451.1:p.Arg540=
XM_011534150.1:c.1620T>C	XP_011532452.1:p.Arg540=
XM_011534151.1:c.1566T>C	XP_011532453.1:p.Arg522=
XM_011534152.1:c.1620T>C	XP_011532454.1:p.Arg540=
XM_011534149.3:c.1620T>C	XP_011532451.1:p.Arg540=
XM_011534150.3:c.1620T>C	XP_011532452.1:p.Arg540=
XM_011534151.3:c.1566T>C	XP_011532453.1:p.Arg522=
XM_011534152.2:c.1620T>C	XP_011532454.1:p.Arg540=
XM_017007303.2:c.1566T>C	XP_016862792.1:p.Arg522=
NM_004656.4:c.1620T>C MANE Select	NP_004647.1:p.Arg540=