Canonical Allele Identifier: CA433885765

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1111081
• ClinVar RCV Id: RCV001437520
• dbSNP Id: rs1253470807
• gnomAD v4: 3-52403141-G-C
• MyVariant Identifiers: chr3:g.52437157G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403141G>C , CM000665.2:g.52403141G>C	GRCh38
NC_000003.11:g.52437157G>C , CM000665.1:g.52437157G>C	GRCh37
NC_000003.10:g.52412197G>C	NCBI36
NG_031859.1:g.11853C>G , LRG_529:g.11853C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1887C>G MANE Select	ENSP00000417132.1:p.Pro629=
ENST00000296288.9:c.1833C>G	ENSP00000296288.5:p.Pro611=
ENST00000460680.5:c.1887C>G	ENSP00000417132.1:p.Pro629=
ENST00000466093.1:n.294C>G
ENST00000469613.5:c.120-300C>G
ENST00000478368.1:c.390C>G	ENSP00000420647.1:p.Pro130=
NM_004656.3:c.1887C>G	NP_004647.1:p.Pro629=
XM_011534149.1:c.1887C>G	XP_011532451.1:p.Pro629=
XM_011534150.1:c.1845+42C>G	XP_011532452.1:n.1845+42C>G
XM_011534151.1:c.1833C>G	XP_011532453.1:p.Pro611=
XM_011534152.1:c.1845+42C>G	XP_011532454.1:n.1845+42C>G
XM_011534149.3:c.1887C>G	XP_011532451.1:p.Pro629=
XM_011534150.3:c.1845+42C>G	XP_011532452.1:n.1845+42C>G
XM_011534151.3:c.1833C>G	XP_011532453.1:p.Pro611=
XM_011534152.2:c.1845+42C>G	XP_011532454.1:n.1845+42C>G
XM_017007303.2:c.1833C>G	XP_016862792.1:p.Pro611=
NM_004656.4:c.1887C>G MANE Select	NP_004647.1:p.Pro629=