Canonical Allele Identifier: CA353098721
Gene: BAP1 HGNC NCBI

Linked Data

dbSNP Id: rs2153226479

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403226T>C , CM000665.2:g.52403226T>C GRCh38
NC_000003.11:g.52437242T>C , CM000665.1:g.52437242T>C GRCh37
NC_000003.10:g.52412282T>C NCBI36
NG_031859.1:g.11768A>G , LRG_529:g.11768A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1802A>G MANE Select ENSP00000417132.1:p.Lys601Arg
ENST00000296288.9:c.1748A>G ENSP00000296288.5:p.Lys583Arg
ENST00000460680.5:c.1802A>G ENSP00000417132.1:p.Lys601Arg
ENST00000466093.1:n.209A>G
ENST00000469613.5:c.120-385A>G
ENST00000478368.1:c.305A>G ENSP00000420647.1:p.Lys102Arg
NM_004656.3:c.1802A>G NP_004647.1:p.Lys601Arg
XM_011534149.1:c.1802A>G XP_011532451.1:p.Lys601Arg
XM_011534150.1:c.1802A>G XP_011532452.1:p.Lys601Arg
XM_011534151.1:c.1748A>G XP_011532453.1:p.Lys583Arg
XM_011534152.1:c.1802A>G XP_011532454.1:p.Lys601Arg
XM_011534149.3:c.1802A>G XP_011532451.1:p.Lys601Arg
XM_011534150.3:c.1802A>G XP_011532452.1:p.Lys601Arg
XM_011534151.3:c.1748A>G XP_011532453.1:p.Lys583Arg
XM_011534152.2:c.1802A>G XP_011532454.1:p.Lys601Arg
XM_017007303.2:c.1748A>G XP_016862792.1:p.Lys583Arg
NM_004656.4:c.1802A>G MANE Select NP_004647.1:p.Lys601Arg