Canonical Allele Identifier: CA353098197

Gene: BAP1

Linked Data

• gnomAD v4: 3-52403181-A-G
• MyVariant Identifiers: chr3:g.52437197A>G (hg19) ; chr3:g.52403181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403181A>G , CM000665.2:g.52403181A>G	GRCh38
NC_000003.11:g.52437197A>G , CM000665.1:g.52437197A>G	GRCh37
NC_000003.10:g.52412237A>G	NCBI36
NG_031859.1:g.11813T>C , LRG_529:g.11813T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.1847T>C MANE Select	ENSP00000417132.1:p.Val616Ala
ENST00000296288.9:c.1793T>C	ENSP00000296288.5:p.Val598Ala
ENST00000460680.5:c.1847T>C	ENSP00000417132.1:p.Val616Ala
ENST00000466093.1:n.254T>C
ENST00000469613.5:c.120-340T>C
ENST00000478368.1:c.350T>C	ENSP00000420647.1:p.Val117Ala
NM_004656.3:c.1847T>C	NP_004647.1:p.Val616Ala
XM_011534149.1:c.1847T>C	XP_011532451.1:p.Val616Ala
XM_011534150.1:c.1845+2T>C	XP_011532452.1:n.1845+2T>C
XM_011534151.1:c.1793T>C	XP_011532453.1:p.Val598Ala
XM_011534152.1:c.1845+2T>C	XP_011532454.1:n.1845+2T>C
XM_011534149.3:c.1847T>C	XP_011532451.1:p.Val616Ala
XM_011534150.3:c.1845+2T>C	XP_011532452.1:n.1845+2T>C
XM_011534151.3:c.1793T>C	XP_011532453.1:p.Val598Ala
XM_011534152.2:c.1845+2T>C	XP_011532454.1:n.1845+2T>C
XM_017007303.2:c.1793T>C	XP_016862792.1:p.Val598Ala
NM_004656.4:c.1847T>C MANE Select	NP_004647.1:p.Val616Ala