Canonical Allele Identifier: CA2436812

Gene: BAP1

Linked Data

• ClinVar Variation Id: 240047
• ClinVar RCV Id: RCV000226524 ; RCV000564528
• dbSNP Id: rs150524807
• ExAC: 3:52437754 G / A
• gnomAD v2: 3-52437754-G-A
• gnomAD v3: 3-52403738-G-A
• gnomAD v4: 3-52403738-G-A
• MyVariant Identifiers: chr3:g.52437754G>A (hg19) ; chr3:g.52403738G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403738G>A , CM000665.2:g.52403738G>A	GRCh38
NC_000003.11:g.52437754G>A , CM000665.1:g.52437754G>A	GRCh37
NC_000003.10:g.52412794G>A	NCBI36
NG_031859.1:g.11256C>T , LRG_529:g.11256C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1407C>T MANE Select	ENSP00000417132.1:p.Ser469=
ENST00000296288.9:c.1353C>T	ENSP00000296288.5:p.Ser451=
ENST00000460680.5:c.1407C>T	ENSP00000417132.1:p.Ser469=
ENST00000469613.5:c.119+63C>T
ENST00000490804.1:n.835C>T
NM_004656.3:c.1407C>T	NP_004647.1:p.Ser469=
XM_011534149.1:c.1407C>T	XP_011532451.1:p.Ser469=
XM_011534150.1:c.1407C>T	XP_011532452.1:p.Ser469=
XM_011534151.1:c.1353C>T	XP_011532453.1:p.Ser451=
XM_011534152.1:c.1407C>T	XP_011532454.1:p.Ser469=
XM_011534149.3:c.1407C>T	XP_011532451.1:p.Ser469=
XM_011534150.3:c.1407C>T	XP_011532452.1:p.Ser469=
XM_011534151.3:c.1353C>T	XP_011532453.1:p.Ser451=
XM_011534152.2:c.1407C>T	XP_011532454.1:p.Ser469=
XM_017007303.2:c.1353C>T	XP_016862792.1:p.Ser451=
NM_004656.4:c.1407C>T MANE Select	NP_004647.1:p.Ser469=