Canonical Allele Identifier: CA353094514

Gene: BAP1

Linked Data

• gnomAD v4: 3-52402406-A-G
• MyVariant Identifiers: chr3:g.52436422A>G (hg19) ; chr3:g.52402406A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402406A>G , CM000665.2:g.52402406A>G	GRCh38
NC_000003.11:g.52436422A>G , CM000665.1:g.52436422A>G	GRCh37
NC_000003.10:g.52411462A>G	NCBI36
NG_031859.1:g.12588T>C , LRG_529:g.12588T>C
NG_052911.1:g.91088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2072T>C MANE Select	ENSP00000417132.1:p.Leu691Pro
ENST00000296288.9:c.2018T>C	ENSP00000296288.5:p.Leu673Pro
ENST00000460680.5:c.2072T>C	ENSP00000417132.1:p.Leu691Pro
ENST00000466093.1:n.745T>C
ENST00000469613.5:c.271T>C
ENST00000478368.1:c.644T>C	ENSP00000420647.1:p.Leu215Pro
NM_004656.3:c.2072T>C	NP_004647.1:p.Leu691Pro
XM_011534149.1:c.2141T>C	XP_011532451.1:p.Leu714Pro
XM_011534150.1:c.2096T>C	XP_011532452.1:p.Leu699Pro
XM_011534151.1:c.2087T>C	XP_011532453.1:p.Leu696Pro
XM_011534152.1:c.2027T>C	XP_011532454.1:p.Leu676Pro
XM_011534149.3:c.2141T>C	XP_011532451.1:p.Leu714Pro
XM_011534150.3:c.2096T>C	XP_011532452.1:p.Leu699Pro
XM_011534151.3:c.2087T>C	XP_011532453.1:p.Leu696Pro
XM_011534152.2:c.2027T>C	XP_011532454.1:p.Leu676Pro
XM_017007303.2:c.2018T>C	XP_016862792.1:p.Leu673Pro
NM_004656.4:c.2072T>C MANE Select	NP_004647.1:p.Leu691Pro