Canonical Allele Identifier: CA353094394

Gene: BAP1

Linked Data

• dbSNP Id: rs753438711
• MyVariant Identifiers: chr3:g.52436402C>G (hg19) ; chr3:g.52402386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402386C>G , CM000665.2:g.52402386C>G	GRCh38
NC_000003.11:g.52436402C>G , CM000665.1:g.52436402C>G	GRCh37
NC_000003.10:g.52411442C>G	NCBI36
NG_031859.1:g.12608G>C , LRG_529:g.12608G>C
NG_052911.1:g.91068C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2092G>C MANE Select	ENSP00000417132.1:p.Val698Leu
ENST00000296288.9:c.2038G>C	ENSP00000296288.5:p.Val680Leu
ENST00000460680.5:c.2092G>C	ENSP00000417132.1:p.Val698Leu
ENST00000466093.1:n.765G>C
ENST00000469613.5:c.291G>C
ENST00000478368.1:c.664G>C	ENSP00000420647.1:p.Val222Leu
NM_004656.3:c.2092G>C	NP_004647.1:p.Val698Leu
XM_011534149.1:c.2161G>C	XP_011532451.1:p.Val721Leu
XM_011534150.1:c.2116G>C	XP_011532452.1:p.Val706Leu
XM_011534151.1:c.2107G>C	XP_011532453.1:p.Val703Leu
XM_011534152.1:c.2047G>C	XP_011532454.1:p.Val683Leu
XM_011534149.3:c.2161G>C	XP_011532451.1:p.Val721Leu
XM_011534150.3:c.2116G>C	XP_011532452.1:p.Val706Leu
XM_011534151.3:c.2107G>C	XP_011532453.1:p.Val703Leu
XM_011534152.2:c.2047G>C	XP_011532454.1:p.Val683Leu
XM_017007303.2:c.2038G>C	XP_016862792.1:p.Val680Leu
NM_004656.4:c.2092G>C MANE Select	NP_004647.1:p.Val698Leu