Canonical Allele Identifier: CA353099524

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1418046
• ClinVar RCV Id: RCV001951937
• dbSNP Id: rs2153226569
• gnomAD v4: 3-52403419-T-G
• MyVariant Identifiers: chr3:g.52437435T>G (hg19) ; chr3:g.52403419T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403419T>G , CM000665.2:g.52403419T>G	GRCh38
NC_000003.11:g.52437435T>G , CM000665.1:g.52437435T>G	GRCh37
NC_000003.10:g.52412475T>G	NCBI36
NG_031859.1:g.11575A>C , LRG_529:g.11575A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1726A>C MANE Select	ENSP00000417132.1:p.Thr576Pro
ENST00000296288.9:c.1672A>C	ENSP00000296288.5:p.Thr558Pro
ENST00000460680.5:c.1726A>C	ENSP00000417132.1:p.Thr576Pro
ENST00000466093.1:n.133A>C
ENST00000469613.5:c.119+382A>C
ENST00000478368.1:c.229A>C	ENSP00000420647.1:p.Thr77Pro
NM_004656.3:c.1726A>C	NP_004647.1:p.Thr576Pro
XM_011534149.1:c.1726A>C	XP_011532451.1:p.Thr576Pro
XM_011534150.1:c.1726A>C	XP_011532452.1:p.Thr576Pro
XM_011534151.1:c.1672A>C	XP_011532453.1:p.Thr558Pro
XM_011534152.1:c.1726A>C	XP_011532454.1:p.Thr576Pro
XM_011534149.3:c.1726A>C	XP_011532451.1:p.Thr576Pro
XM_011534150.3:c.1726A>C	XP_011532452.1:p.Thr576Pro
XM_011534151.3:c.1672A>C	XP_011532453.1:p.Thr558Pro
XM_011534152.2:c.1726A>C	XP_011532454.1:p.Thr576Pro
XM_017007303.2:c.1672A>C	XP_016862792.1:p.Thr558Pro
NM_004656.4:c.1726A>C MANE Select	NP_004647.1:p.Thr576Pro