Canonical Allele Identifier: CA2436706

Gene: BAP1

Linked Data

• ClinVar Variation Id: 620598
• ClinVar RCV Id: RCV000761021 ; RCV000774726 ; RCV000797507 ; RCV001566382 ; RCV003411701
• dbSNP Id: rs771494475
• ExAC: 3:52437211 C / G
• gnomAD v2: 3-52437211-C-G
• gnomAD v3: 3-52403195-C-G
• gnomAD v4: 3-52403195-C-G
• MyVariant Identifiers: chr3:g.52437211C>G (hg19) ; chr3:g.52403195C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403195C>G , CM000665.2:g.52403195C>G	GRCh38
NC_000003.11:g.52437211C>G , CM000665.1:g.52437211C>G	GRCh37
NC_000003.10:g.52412251C>G	NCBI36
NG_031859.1:g.11799G>C , LRG_529:g.11799G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1833G>C MANE Select	ENSP00000417132.1:p.Glu611Asp
ENST00000296288.9:c.1779G>C	ENSP00000296288.5:p.Glu593Asp
ENST00000460680.5:c.1833G>C	ENSP00000417132.1:p.Glu611Asp
ENST00000466093.1:n.240G>C
ENST00000469613.5:c.120-354G>C
ENST00000478368.1:c.336G>C	ENSP00000420647.1:p.Glu112Asp
NM_004656.3:c.1833G>C	NP_004647.1:p.Glu611Asp
XM_011534149.1:c.1833G>C	XP_011532451.1:p.Glu611Asp
XM_011534150.1:c.1833G>C	XP_011532452.1:p.Glu611Asp
XM_011534151.1:c.1779G>C	XP_011532453.1:p.Glu593Asp
XM_011534152.1:c.1833G>C	XP_011532454.1:p.Glu611Asp
XM_011534149.3:c.1833G>C	XP_011532451.1:p.Glu611Asp
XM_011534150.3:c.1833G>C	XP_011532452.1:p.Glu611Asp
XM_011534151.3:c.1779G>C	XP_011532453.1:p.Glu593Asp
XM_011534152.2:c.1833G>C	XP_011532454.1:p.Glu611Asp
XM_017007303.2:c.1779G>C	XP_016862792.1:p.Glu593Asp
NM_004656.4:c.1833G>C MANE Select	NP_004647.1:p.Glu611Asp