Canonical Allele Identifier: CA16611514

Gene: BAP1

Linked Data

• ClinVar Variation Id: 412402
• ClinVar RCV Id: RCV000458742 ; RCV000580496
• dbSNP Id: rs1060503728
• gnomAD v4: 3-52403176-G-C
• MyVariant Identifiers: chr3:g.52437192G>C (hg19) ; chr3:g.52403176G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403176G>C , CM000665.2:g.52403176G>C	GRCh38
NC_000003.11:g.52437192G>C , CM000665.1:g.52437192G>C	GRCh37
NC_000003.10:g.52412232G>C	NCBI36
NG_031859.1:g.11818C>G , LRG_529:g.11818C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1852C>G MANE Select	ENSP00000417132.1:p.Pro618Ala
ENST00000296288.9:c.1798C>G	ENSP00000296288.5:p.Pro600Ala
ENST00000460680.5:c.1852C>G	ENSP00000417132.1:p.Pro618Ala
ENST00000466093.1:n.259C>G
ENST00000469613.5:c.120-335C>G
ENST00000478368.1:c.355C>G	ENSP00000420647.1:p.Pro119Ala
NM_004656.3:c.1852C>G	NP_004647.1:p.Pro618Ala
XM_011534149.1:c.1852C>G	XP_011532451.1:p.Pro618Ala
XM_011534150.1:c.1845+7C>G	XP_011532452.1:n.1845+7C>G
XM_011534151.1:c.1798C>G	XP_011532453.1:p.Pro600Ala
XM_011534152.1:c.1845+7C>G	XP_011532454.1:n.1845+7C>G
XM_011534149.3:c.1852C>G	XP_011532451.1:p.Pro618Ala
XM_011534150.3:c.1845+7C>G	XP_011532452.1:n.1845+7C>G
XM_011534151.3:c.1798C>G	XP_011532453.1:p.Pro600Ala
XM_011534152.2:c.1845+7C>G	XP_011532454.1:n.1845+7C>G
XM_017007303.2:c.1798C>G	XP_016862792.1:p.Pro600Ala
NM_004656.4:c.1852C>G MANE Select	NP_004647.1:p.Pro618Ala