Canonical Allele Identifier: CA5927706
Gene: BBOX1 HGNC NCBI
BBOX1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.27127302T>A
GRCh37 chr11:g.27148849T>A
Revel Score:
ENST00000529202 0.742
ENST00000263182 (MANE Select) 0.742
ENST00000528583 0.742
ENST00000525090 0.742
gnomAD v2:
11:27148849 T / A
gnomAD v3:
11:27127302 T / A
gnomAD v4:
chr11-27127302-T-A
Joint Max Group AF 0.00072216 (AFR)
Genomes Max Group AF 0.00066558 (AFR)
Exomes Max Group AF 0.00064468 (AFR)
ClinVar RCV:
RCV004088582
ClinVar Variation:
2223780
dbSNP:
372164912
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.27127302T>A , CM000673.2:g.27127302T>A GRCh38
NC_000011.9:g.27148849T>A , CM000673.1:g.27148849T>A GRCh37
NC_000011.8:g.27105425T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000263182.8:c.1013T>A (BBOX1) MANE Select ENSP00000263182.3:p.Ile338Asn
ENST00000263182.7:c.1013T>A (BBOX1) ENSP00000263182.3:p.Ile338Asn
ENST00000525090.1:c.1013T>A (BBOX1) ENSP00000433772.1:p.Ile338Asn
ENST00000528583.5:c.1013T>A (BBOX1) ENSP00000434918.1:p.Ile338Asn
ENST00000529202.5:c.1013T>A (BBOX1) ENSP00000435781.1:p.Ile338Asn
NM_003986.2:c.1013T>A (BBOX1) NP_003977.1:p.Ile338Asn
NR_125766.1:n.694+23748A>T (BBOX1-AS1)
NR_125767.1:n.334+23748A>T (BBOX1-AS1)
NR_125768.1:n.377+23748A>T (BBOX1-AS1)
XM_005253159.2:c.1013T>A (BBOX1) XP_005253216.1:p.Ile338Asn
XM_005253160.2:c.1013T>A (BBOX1) XP_005253217.1:p.Ile338Asn
XM_005253161.2:c.1013T>A (BBOX1) XP_005253218.1:p.Ile338Asn
XM_011520402.1:c.1013T>A (BBOX1) XP_011518704.1:p.Ile338Asn
XM_011520403.1:c.1013T>A (BBOX1) XP_011518705.1:p.Ile338Asn
XM_017018403.2:c.1013T>A (BBOX1) XP_016873892.1:p.Ile338Asn
NM_003986.3:c.1013T>A (BBOX1) MANE Select NP_003977.1:p.Ile338Asn
NM_001376258.1:c.1013T>A (BBOX1) NP_001363187.1:p.Ile338Asn
NM_001376259.1:c.1013T>A (BBOX1) NP_001363188.1:p.Ile338Asn
NM_001376260.1:c.1013T>A (BBOX1) NP_001363189.1:p.Ile338Asn
NM_001376261.1:c.1013T>A (BBOX1) NP_001363190.1:p.Ile338Asn
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