Canonical Allele Identifier: CA353100938

Gene: BAP1

Linked Data

• ClinVar Variation Id: 2774746
• ClinVar RCV Id: RCV003585933
• MyVariant Identifiers: chr3:g.52437657C>T (hg19) ; chr3:g.52403641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403641C>T , CM000665.2:g.52403641C>T	GRCh38
NC_000003.11:g.52437657C>T , CM000665.1:g.52437657C>T	GRCh37
NC_000003.10:g.52412697C>T	NCBI36
NG_031859.1:g.11353G>A , LRG_529:g.11353G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1504G>A MANE Select	ENSP00000417132.1:p.Ala502Thr
ENST00000296288.9:c.1450G>A	ENSP00000296288.5:p.Ala484Thr
ENST00000460680.5:c.1504G>A	ENSP00000417132.1:p.Ala502Thr
ENST00000469613.5:c.119+160G>A
ENST00000478368.1:c.7G>A	ENSP00000420647.1:p.Ala3Thr
NM_004656.3:c.1504G>A	NP_004647.1:p.Ala502Thr
XM_011534149.1:c.1504G>A	XP_011532451.1:p.Ala502Thr
XM_011534150.1:c.1504G>A	XP_011532452.1:p.Ala502Thr
XM_011534151.1:c.1450G>A	XP_011532453.1:p.Ala484Thr
XM_011534152.1:c.1504G>A	XP_011532454.1:p.Ala502Thr
XM_011534149.3:c.1504G>A	XP_011532451.1:p.Ala502Thr
XM_011534150.3:c.1504G>A	XP_011532452.1:p.Ala502Thr
XM_011534151.3:c.1450G>A	XP_011532453.1:p.Ala484Thr
XM_011534152.2:c.1504G>A	XP_011532454.1:p.Ala502Thr
XM_017007303.2:c.1450G>A	XP_016862792.1:p.Ala484Thr
NM_004656.4:c.1504G>A MANE Select	NP_004647.1:p.Ala502Thr