Canonical Allele Identifier: CA2436946

Gene: BAP1

Linked Data

• ClinVar Variation Id: 240070
• ClinVar RCV Id: RCV001579864 ; RCV003316290
• dbSNP Id: rs143659795
• ExAC: 3:52439282 G / A
• gnomAD v2: 3-52439282-G-A
• gnomAD v3: 3-52405266-G-A
• gnomAD v4: 3-52405266-G-A
• MyVariant Identifiers: chr3:g.52439282G>A (hg19) ; chr3:g.52405266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52405266G>A , CM000665.2:g.52405266G>A	GRCh38
NC_000003.11:g.52439282G>A , CM000665.1:g.52439282G>A	GRCh37
NC_000003.10:g.52414322G>A	NCBI36
NG_031859.1:g.9728C>T , LRG_529:g.9728C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.960C>T MANE Select	ENSP00000417132.1:p.Cys320=
ENST00000296288.9:c.906C>T	ENSP00000296288.5:p.Cys302=
ENST00000460680.5:c.960C>T	ENSP00000417132.1:p.Cys320=
ENST00000490804.1:n.388C>T
NM_004656.3:c.960C>T	NP_004647.1:p.Cys320=
XM_011534149.1:c.960C>T	XP_011532451.1:p.Cys320=
XM_011534150.1:c.960C>T	XP_011532452.1:p.Cys320=
XM_011534151.1:c.906C>T	XP_011532453.1:p.Cys302=
XM_011534152.1:c.960C>T	XP_011532454.1:p.Cys320=
XM_011534149.3:c.960C>T	XP_011532451.1:p.Cys320=
XM_011534150.3:c.960C>T	XP_011532452.1:p.Cys320=
XM_011534151.3:c.906C>T	XP_011532453.1:p.Cys302=
XM_011534152.2:c.960C>T	XP_011532454.1:p.Cys320=
XM_017007303.2:c.906C>T	XP_016862792.1:p.Cys302=
NM_004656.4:c.960C>T MANE Select	NP_004647.1:p.Cys320=