Canonical Allele Identifier: CA8190914
Gene: BCO1 HGNC NCBI
COSMIC:
COSM6310153 (not active)
MyVariant.info:
GRCh38 chr16:g.81270154T>C
GRCh37 chr16:g.81303759T>C
gnomAD v2:
16:81303759 T / C
gnomAD v3:
16:81270154 T / C
gnomAD v4:
chr16-81270154-T-C
Joint Max Group AF 0.4520392 (NFE)
Genomes Max Group AF 0.45719199 (NFE)
Exomes Max Group AF 0.45149462 (NFE)
ClinVar RCV:
RCV001619047
ClinVar Variation:
1233865
dbSNP:
4889294
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81270154T>C , CM000678.2:g.81270154T>C GRCh38
NC_000016.9:g.81303759T>C , CM000678.1:g.81303759T>C GRCh37
NC_000016.8:g.79861260T>C NCBI36
NG_012171.1:g.36464T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258168.7:c.844-5T>C MANE Select ENSP00000258168.2:n.844-5T>C
ENST00000258168.6:c.844-5T>C ENSP00000258168.2:n.844-5T>C
ENST00000563804.5:c.*468-5T>C ENSP00000457910.1:n.*468-5T>C
NM_017429.2:c.844-5T>C NP_059125.2:n.844-5T>C
XM_011523109.1:c.844-5T>C XP_011521411.1:n.844-5T>C
XM_011523110.1:c.295-5T>C XP_011521412.1:n.295-5T>C
XM_011523109.2:c.844-5T>C XP_011521411.1:n.844-5T>C
XM_017023286.2:c.844-5T>C XP_016878775.1:n.844-5T>C
XM_017023287.2:c.844-5T>C XP_016878776.1:n.844-5T>C
XM_017023288.2:c.844-5T>C XP_016878777.1:n.844-5T>C
XM_017023289.1:c.67-5T>C XP_016878778.1:n.67-5T>C
XR_002957813.1:n.1171-5T>C
NM_017429.3:c.844-5T>C MANE Select NP_059125.2:n.844-5T>C
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