Canonical Allele Identifier: CA2436790

Gene: BAP1

Linked Data

• ClinVar Variation Id: 1774209
• ClinVar RCV Id: RCV002392211 ; RCV003095267
• dbSNP Id: rs776634869
• ExAC: 3:52437650 T / C
• gnomAD v2: 3-52437650-T-C
• gnomAD v4: 3-52403634-T-C
• MyVariant Identifiers: chr3:g.52437650T>C (hg19) ; chr3:g.52403634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52403634T>C , CM000665.2:g.52403634T>C	GRCh38
NC_000003.11:g.52437650T>C , CM000665.1:g.52437650T>C	GRCh37
NC_000003.10:g.52412690T>C	NCBI36
NG_031859.1:g.11360A>G , LRG_529:g.11360A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.1511A>G MANE Select	ENSP00000417132.1:p.Asn504Ser
ENST00000296288.9:c.1457A>G	ENSP00000296288.5:p.Asn486Ser
ENST00000460680.5:c.1511A>G	ENSP00000417132.1:p.Asn504Ser
ENST00000469613.5:c.119+167A>G
ENST00000478368.1:c.14A>G	ENSP00000420647.1:p.Asn5Ser
NM_004656.3:c.1511A>G	NP_004647.1:p.Asn504Ser
XM_011534149.1:c.1511A>G	XP_011532451.1:p.Asn504Ser
XM_011534150.1:c.1511A>G	XP_011532452.1:p.Asn504Ser
XM_011534151.1:c.1457A>G	XP_011532453.1:p.Asn486Ser
XM_011534152.1:c.1511A>G	XP_011532454.1:p.Asn504Ser
XM_011534149.3:c.1511A>G	XP_011532451.1:p.Asn504Ser
XM_011534150.3:c.1511A>G	XP_011532452.1:p.Asn504Ser
XM_011534151.3:c.1457A>G	XP_011532453.1:p.Asn486Ser
XM_011534152.2:c.1511A>G	XP_011532454.1:p.Asn504Ser
XM_017007303.2:c.1457A>G	XP_016862792.1:p.Asn486Ser
NM_004656.4:c.1511A>G MANE Select	NP_004647.1:p.Asn504Ser