Canonical Allele Identifier: CA10619124

Gene: BAP1

Linked Data

• ClinVar Variation Id: 346106
• ClinVar RCV Id: RCV000262701
• dbSNP Id: rs886058701
• gnomAD v3: 3-52401458-A-G
• gnomAD v4: 3-52401458-A-G
• MyVariant Identifiers: chr3:g.52435474A>G (hg19) ; chr3:g.52401458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52401458A>G , CM000665.2:g.52401458A>G	GRCh38
NC_000003.11:g.52435474A>G , CM000665.1:g.52435474A>G	GRCh37
NC_000003.10:g.52410514A>G	NCBI36
NG_031859.1:g.13536T>C , LRG_529:g.13536T>C
NG_052911.1:g.90140A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.*830T>C MANE Select	ENSP00000417132.1:n.*830T>C
ENST00000296288.9:c.*830T>C	ENSP00000296288.5:n.*830T>C
ENST00000460680.5:c.*830T>C	ENSP00000417132.1:n.*830T>C
ENST00000469613.5:c.1219T>C
NM_004656.3:c.*830T>C	NP_004647.1:n.*830T>C
XM_011534152.1:c.*830T>C	XP_011532454.1:n.*830T>C
XM_011534149.3:c.*830T>C	XP_011532451.1:n.*830T>C
XM_011534150.3:c.*830T>C	XP_011532452.1:n.*830T>C
XM_011534151.3:c.*830T>C	XP_011532453.1:n.*830T>C
XM_011534152.2:c.*830T>C	XP_011532454.1:n.*830T>C
XM_017007303.2:c.*830T>C	XP_016862792.1:n.*830T>C
NM_004656.4:c.*830T>C MANE Select	NP_004647.1:n.*830T>C