Canonical Allele Identifier: CA353099844

Gene: BAP1

Linked Data

• ClinVar Variation Id: 565531
• ClinVar RCV Id: RCV000685114 ; RCV002397360
• dbSNP Id: rs1559586451
• gnomAD v4: 3-52403458-G-A
• MyVariant Identifiers: chr3:g.52437474G>A (hg19) ; chr3:g.52403458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403458G>A , CM000665.2:g.52403458G>A	GRCh38
NC_000003.11:g.52437474G>A , CM000665.1:g.52437474G>A	GRCh37
NC_000003.10:g.52412514G>A	NCBI36
NG_031859.1:g.11536C>T , LRG_529:g.11536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1687C>T MANE Select	ENSP00000417132.1:p.His563Tyr
ENST00000296288.9:c.1633C>T	ENSP00000296288.5:p.His545Tyr
ENST00000460680.5:c.1687C>T	ENSP00000417132.1:p.His563Tyr
ENST00000466093.1:n.94C>T
ENST00000469613.5:c.119+343C>T
ENST00000478368.1:c.190C>T	ENSP00000420647.1:p.His64Tyr
NM_004656.3:c.1687C>T	NP_004647.1:p.His563Tyr
XM_011534149.1:c.1687C>T	XP_011532451.1:p.His563Tyr
XM_011534150.1:c.1687C>T	XP_011532452.1:p.His563Tyr
XM_011534151.1:c.1633C>T	XP_011532453.1:p.His545Tyr
XM_011534152.1:c.1687C>T	XP_011532454.1:p.His563Tyr
XM_011534149.3:c.1687C>T	XP_011532451.1:p.His563Tyr
XM_011534150.3:c.1687C>T	XP_011532452.1:p.His563Tyr
XM_011534151.3:c.1633C>T	XP_011532453.1:p.His545Tyr
XM_011534152.2:c.1687C>T	XP_011532454.1:p.His563Tyr
XM_017007303.2:c.1633C>T	XP_016862792.1:p.His545Tyr
NM_004656.4:c.1687C>T MANE Select	NP_004647.1:p.His563Tyr