Canonical Allele Identifier: CA2436726

Gene: BAP1

Linked Data

• ClinVar Variation Id: 485280
• ClinVar RCV Id: RCV000568360 ; RCV001464435 ; RCV001572370
• dbSNP Id: rs545682192
• ExAC: 3:52437310 A / C
• gnomAD v2: 3-52437310-A-C
• gnomAD v4: 3-52403294-A-C
• MyVariant Identifiers: chr3:g.52437310A>C (hg19) ; chr3:g.52403294A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403294A>C , CM000665.2:g.52403294A>C	GRCh38
NC_000003.11:g.52437310A>C , CM000665.1:g.52437310A>C	GRCh37
NC_000003.10:g.52412350A>C	NCBI36
NG_031859.1:g.11700T>G , LRG_529:g.11700T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1734T>G MANE Select	ENSP00000417132.1:p.Gly578=
ENST00000296288.9:c.1680T>G	ENSP00000296288.5:p.Gly560=
ENST00000460680.5:c.1734T>G	ENSP00000417132.1:p.Gly578=
ENST00000466093.1:n.141T>G
ENST00000469613.5:c.120-453T>G
ENST00000478368.1:c.237T>G	ENSP00000420647.1:p.Gly79=
NM_004656.3:c.1734T>G	NP_004647.1:p.Gly578=
XM_011534149.1:c.1734T>G	XP_011532451.1:p.Gly578=
XM_011534150.1:c.1734T>G	XP_011532452.1:p.Gly578=
XM_011534151.1:c.1680T>G	XP_011532453.1:p.Gly560=
XM_011534152.1:c.1734T>G	XP_011532454.1:p.Gly578=
XM_011534149.3:c.1734T>G	XP_011532451.1:p.Gly578=
XM_011534150.3:c.1734T>G	XP_011532452.1:p.Gly578=
XM_011534151.3:c.1680T>G	XP_011532453.1:p.Gly560=
XM_011534152.2:c.1734T>G	XP_011532454.1:p.Gly578=
XM_017007303.2:c.1680T>G	XP_016862792.1:p.Gly560=
NM_004656.4:c.1734T>G MANE Select	NP_004647.1:p.Gly578=