Canonical Allele Identifier: CA1018358
Gene: TRIM33 HGNC NCBI
COSMIC:
COSM3735916 (not active)
MyVariant.info:
GRCh38 chr1:g.114405659A>G
GRCh37 chr1:g.114948281A>G
Revel Score:
ENST00000358465 (MANE Select) 0.100
ENST00000369543 0.100
ENST00000450349 0.100
gnomAD v2:
1:114948281 A / G
gnomAD v3:
1:114405659 A / G
gnomAD v4:
chr1-114405659-A-G
Joint Max Group AF 0.96476484 (AFR)
Genomes Max Group AF 0.96187795 (AFR)
Exomes Max Group AF 0.96289975 (AFR)
dbSNP:
6537825
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114405659A>G , CM000663.2:g.114405659A>G GRCh38
NC_000001.10:g.114948281A>G , CM000663.1:g.114948281A>G GRCh37
NC_000001.9:g.114749804A>G NCBI36
NG_023287.1:g.110501T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358465.7:c.2519T>C MANE Select ENSP00000351250.2:p.Ile840Thr
ENST00000358465.6:c.2519T>C ENSP00000351250.2:p.Ile840Thr
ENST00000369543.6:c.2519T>C ENSP00000358556.2:p.Ile840Thr
ENST00000448034.5:c.1801T>C
ENST00000450349.3:c.2519T>C ENSP00000412077.3:p.Ile840Thr
ENST00000476908.1:n.128T>C
NM_015906.3:c.2519T>C NP_056990.3:p.Ile840Thr
NM_033020.2:c.2519T>C NP_148980.2:p.Ile840Thr
XM_005270936.2:c.2591T>C XP_005270993.1:p.Ile864Thr
XM_005270937.2:c.2591T>C XP_005270994.1:p.Ile864Thr
XM_011541568.1:c.2588T>C XP_011539870.1:p.Ile863Thr
XR_246401.2:n.15+2233A>G
XM_005270936.4:c.2591T>C XP_005270993.1:p.Ile864Thr
XM_005270937.4:c.2591T>C XP_005270994.1:p.Ile864Thr
XM_011541568.3:c.2588T>C XP_011539870.1:p.Ile863Thr
XM_024447584.1:c.965T>C XP_024303352.1:p.Ile322Thr
NM_015906.4:c.2519T>C MANE Select NP_056990.3:p.Ile840Thr
NM_033020.3:c.2519T>C NP_148980.2:p.Ile840Thr
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