Canonical Allele Identifier: CA353097912

Gene: BAP1

Linked Data

• ClinVar Variation Id: 922537
• ClinVar RCV Id: RCV001182656
• dbSNP Id: rs1705020085
• MyVariant Identifiers: chr3:g.52437162A>C (hg19) ; chr3:g.52403146A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403146A>C , CM000665.2:g.52403146A>C	GRCh38
NC_000003.11:g.52437162A>C , CM000665.1:g.52437162A>C	GRCh37
NC_000003.10:g.52412202A>C	NCBI36
NG_031859.1:g.11848T>G , LRG_529:g.11848T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1882T>G MANE Select	ENSP00000417132.1:p.Ser628Ala
ENST00000296288.9:c.1828T>G	ENSP00000296288.5:p.Ser610Ala
ENST00000460680.5:c.1882T>G	ENSP00000417132.1:p.Ser628Ala
ENST00000466093.1:n.289T>G
ENST00000469613.5:c.120-305T>G
ENST00000478368.1:c.385T>G	ENSP00000420647.1:p.Ser129Ala
NM_004656.3:c.1882T>G	NP_004647.1:p.Ser628Ala
XM_011534149.1:c.1882T>G	XP_011532451.1:p.Ser628Ala
XM_011534150.1:c.1845+37T>G	XP_011532452.1:n.1845+37T>G
XM_011534151.1:c.1828T>G	XP_011532453.1:p.Ser610Ala
XM_011534152.1:c.1845+37T>G	XP_011532454.1:n.1845+37T>G
XM_011534149.3:c.1882T>G	XP_011532451.1:p.Ser628Ala
XM_011534150.3:c.1845+37T>G	XP_011532452.1:n.1845+37T>G
XM_011534151.3:c.1828T>G	XP_011532453.1:p.Ser610Ala
XM_011534152.2:c.1845+37T>G	XP_011532454.1:n.1845+37T>G
XM_017007303.2:c.1828T>G	XP_016862792.1:p.Ser610Ala
NM_004656.4:c.1882T>G MANE Select	NP_004647.1:p.Ser628Ala