Canonical Allele Identifier: CA8190882
Gene: BCO1 HGNC NCBI
COSMIC:
COSM4129401 (not active)
MyVariant.info:
GRCh38 chr16:g.81268089A>T
GRCh37 chr16:g.81301694A>T
Revel Score:
ENST00000258168 (MANE Select) 0.277
ENST00000425577 0.277
gnomAD v2:
16:81301694 A / T
gnomAD v3:
16:81268089 A / T
gnomAD v4:
chr16-81268089-A-T
Joint Max Group AF 0.44416906 (NFE)
Genomes Max Group AF 0.4495865 (NFE)
Exomes Max Group AF 0.44361165 (NFE)
ClinVar RCV:
RCV001717438
ClinVar Variation:
1293223
dbSNP:
12934922
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81268089A>T , CM000678.2:g.81268089A>T GRCh38
NC_000016.9:g.81301694A>T , CM000678.1:g.81301694A>T GRCh37
NC_000016.8:g.79859195A>T NCBI36
NG_012171.1:g.34399A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258168.7:c.801A>T MANE Select ENSP00000258168.2:p.Arg267Ser
ENST00000258168.6:c.801A>T ENSP00000258168.2:p.Arg267Ser
ENST00000563804.5:c.*425A>T ENSP00000457910.1:n.*425A>T
NM_017429.2:c.801A>T NP_059125.2:p.Arg267Ser
XM_011523109.1:c.801A>T XP_011521411.1:p.Arg267Ser
XM_011523110.1:c.252A>T XP_011521412.1:p.Arg84Ser
XM_011523109.2:c.801A>T XP_011521411.1:p.Arg267Ser
XM_017023286.2:c.801A>T XP_016878775.1:p.Arg267Ser
XM_017023287.2:c.801A>T XP_016878776.1:p.Arg267Ser
XM_017023288.2:c.801A>T XP_016878777.1:p.Arg267Ser
XM_017023289.1:c.24A>T XP_016878778.1:p.Arg8Ser
XR_002957813.1:n.1128A>T
NM_017429.3:c.801A>T MANE Select NP_059125.2:p.Arg267Ser
Search 100 bp 5'
Search 100 bp 3'