Canonical Allele Identifier: CA353100894

Gene: BAP1

Linked Data

• ClinVar Variation Id: 923482
• ClinVar RCV Id: RCV001184191
• dbSNP Id: rs1228626983
• gnomAD v3: 3-52403633-G-C
• gnomAD v4: 3-52403633-G-C
• MyVariant Identifiers: chr3:g.52437649G>C (hg19) ; chr3:g.52403633G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403633G>C , CM000665.2:g.52403633G>C	GRCh38
NC_000003.11:g.52437649G>C , CM000665.1:g.52437649G>C	GRCh37
NC_000003.10:g.52412689G>C	NCBI36
NG_031859.1:g.11361C>G , LRG_529:g.11361C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1512C>G MANE Select	ENSP00000417132.1:p.Asn504Lys
ENST00000296288.9:c.1458C>G	ENSP00000296288.5:p.Asn486Lys
ENST00000460680.5:c.1512C>G	ENSP00000417132.1:p.Asn504Lys
ENST00000469613.5:c.119+168C>G
ENST00000478368.1:c.15C>G	ENSP00000420647.1:p.Asn5Lys
NM_004656.3:c.1512C>G	NP_004647.1:p.Asn504Lys
XM_011534149.1:c.1512C>G	XP_011532451.1:p.Asn504Lys
XM_011534150.1:c.1512C>G	XP_011532452.1:p.Asn504Lys
XM_011534151.1:c.1458C>G	XP_011532453.1:p.Asn486Lys
XM_011534152.1:c.1512C>G	XP_011532454.1:p.Asn504Lys
XM_011534149.3:c.1512C>G	XP_011532451.1:p.Asn504Lys
XM_011534150.3:c.1512C>G	XP_011532452.1:p.Asn504Lys
XM_011534151.3:c.1458C>G	XP_011532453.1:p.Asn486Lys
XM_011534152.2:c.1512C>G	XP_011532454.1:p.Asn504Lys
XM_017007303.2:c.1458C>G	XP_016862792.1:p.Asn486Lys
NM_004656.4:c.1512C>G MANE Select	NP_004647.1:p.Asn504Lys