Canonical Allele Identifier: CA117066
Gene: BCO1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.81264677C>T
GRCh37 chr16:g.81298282C>T
Revel Score:
ENST00000258168 (MANE Select) 0.936
ENST00000425577 0.936
gnomAD v2:
16:81298282 C / T
gnomAD v3:
16:81264677 C / T
gnomAD v4:
chr16-81264677-C-T
Joint Max Group AF 0.00216594 (NFE)
Genomes Max Group AF 0.00179338 (NFE)
Exomes Max Group AF 0.00217352 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81264677C>T , CM000678.2:g.81264677C>T GRCh38
NC_000016.9:g.81298282C>T , CM000678.1:g.81298282C>T GRCh37
NC_000016.8:g.79855783C>T NCBI36
NG_012171.1:g.30987C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258168.7:c.509C>T MANE Select ENSP00000258168.2:p.Thr170Met
ENST00000258168.6:c.509C>T ENSP00000258168.2:p.Thr170Met
ENST00000563804.5:c.*133C>T ENSP00000457910.1:n.*133C>T
NM_017429.2:c.509C>T NP_059125.2:p.Thr170Met
XM_011523109.1:c.509C>T XP_011521411.1:p.Thr170Met
XM_011523110.1:c.-41C>T XP_011521412.1:n.-41C>T
XM_011523109.2:c.509C>T XP_011521411.1:p.Thr170Met
XM_017023286.2:c.509C>T XP_016878775.1:p.Thr170Met
XM_017023287.2:c.509C>T XP_016878776.1:p.Thr170Met
XM_017023288.2:c.509C>T XP_016878777.1:p.Thr170Met
XR_002957813.1:n.970C>T
NM_017429.3:c.509C>T MANE Select NP_059125.2:p.Thr170Met
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