Canonical Allele Identifier: CA353098219
Gene: BAP1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52403185T>C
GRCh37 chr3:g.52437201T>C
Revel Score:
ENST00000460680 (MANE Select) 0.014
ENST00000296288 0.014
ENST00000478368 0.014
gnomAD v2:
3:52437201 T / C
gnomAD v4:
chr3-52403185-T-C
Joint Max Group AF 0.00003232 (AMR)
Exomes Max Group AF 0.00004358 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52403185T>C , CM000665.2:g.52403185T>C GRCh38
NC_000003.11:g.52437201T>C , CM000665.1:g.52437201T>C GRCh37
NC_000003.10:g.52412241T>C NCBI36
NG_031859.1:g.11809A>G , LRG_529:g.11809A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000460680.6:c.1843A>G MANE Select ENSP00000417132.1:p.Met615Val
ENST00000296288.9:c.1789A>G ENSP00000296288.5:p.Met597Val
ENST00000460680.5:c.1843A>G ENSP00000417132.1:p.Met615Val
ENST00000466093.1:n.250A>G
ENST00000469613.5:c.120-344A>G
ENST00000478368.1:c.346A>G ENSP00000420647.1:p.Met116Val
NM_004656.3:c.1843A>G NP_004647.1:p.Met615Val
XM_011534149.1:c.1843A>G XP_011532451.1:p.Met615Val
XM_011534150.1:c.1843A>G XP_011532452.1:p.Met615Val
XM_011534151.1:c.1789A>G XP_011532453.1:p.Met597Val
XM_011534152.1:c.1843A>G XP_011532454.1:p.Met615Val
XM_011534149.3:c.1843A>G XP_011532451.1:p.Met615Val
XM_011534150.3:c.1843A>G XP_011532452.1:p.Met615Val
XM_011534151.3:c.1789A>G XP_011532453.1:p.Met597Val
XM_011534152.2:c.1843A>G XP_011532454.1:p.Met615Val
XM_017007303.2:c.1789A>G XP_016862792.1:p.Met597Val
NM_004656.4:c.1843A>G MANE Select NP_004647.1:p.Met615Val
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