Canonical Allele Identifier: CA433886338

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1772091
• ClinVar RCV Id: RCV002391653 ; RCV003095121
• dbSNP Id: rs34736117
• MyVariant Identifiers: chr3:g.52437748A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403732A>G , CM000665.2:g.52403732A>G	GRCh38
NC_000003.11:g.52437748A>G , CM000665.1:g.52437748A>G	GRCh37
NC_000003.10:g.52412788A>G	NCBI36
NG_031859.1:g.11262T>C , LRG_529:g.11262T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1413T>C MANE Select	ENSP00000417132.1:p.Ala471=
ENST00000296288.9:c.1359T>C	ENSP00000296288.5:p.Ala453=
ENST00000460680.5:c.1413T>C	ENSP00000417132.1:p.Ala471=
ENST00000469613.5:c.119+69T>C
ENST00000490804.1:n.841T>C
NM_004656.3:c.1413T>C	NP_004647.1:p.Ala471=
XM_011534149.1:c.1413T>C	XP_011532451.1:p.Ala471=
XM_011534150.1:c.1413T>C	XP_011532452.1:p.Ala471=
XM_011534151.1:c.1359T>C	XP_011532453.1:p.Ala453=
XM_011534152.1:c.1413T>C	XP_011532454.1:p.Ala471=
XM_011534149.3:c.1413T>C	XP_011532451.1:p.Ala471=
XM_011534150.3:c.1413T>C	XP_011532452.1:p.Ala471=
XM_011534151.3:c.1359T>C	XP_011532453.1:p.Ala453=
XM_011534152.2:c.1413T>C	XP_011532454.1:p.Ala471=
XM_017007303.2:c.1359T>C	XP_016862792.1:p.Ala453=
NM_004656.4:c.1413T>C MANE Select	NP_004647.1:p.Ala471=