Canonical Allele Identifier: CA3694869
Gene: TRIM31 HGNC NCBI
TRIM31-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.30112592G>A
GRCh37 chr6:g.30080369G>A
Revel Score:
ENST00000376734 (MANE Select) 0.261
ENST00000376728 0.261
ENST00000540829 0.261
gnomAD v2:
6:30080369 G / A
gnomAD v3:
6:30112592 G / A
gnomAD v4:
chr6-30112592-G-A
Joint Max Group AF 0.03281968 (AFR)
Genomes Max Group AF 0.03283424 (AFR)
Exomes Max Group AF 0.03179972 (AFR)
ClinVar RCV:
RCV000956375
ClinVar Variation:
776120
dbSNP:
34704616
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30112592G>A , CM000668.2:g.30112592G>A GRCh38
NC_000006.11:g.30080369G>A , CM000668.1:g.30080369G>A GRCh37
NC_000006.10:g.30188348G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376734.4:c.214C>T (TRIM31) MANE Select ENSP00000365924.3:p.Arg72Trp
ENST00000376734.3:c.214C>T (TRIM31) ENSP00000365924.3:p.Arg72Trp
NM_007028.3:c.214C>T (TRIM31) NP_008959.3:p.Arg72Trp
NR_126470.1:n.395+753G>A (TRIM31-AS1)
XM_011514264.1:c.214C>T (TRIM31) XP_011512566.1:p.Arg72Trp
XM_011514265.1:c.214C>T (TRIM31) XP_011512567.1:p.Arg72Trp
XM_011514266.1:c.214C>T (TRIM31) XP_011512568.1:p.Arg72Trp
XR_926036.1:n.324C>T (TRIM31)
XR_926037.1:n.324C>T (TRIM31)
NM_007028.4:c.214C>T (TRIM31) NP_008959.3:p.Arg72Trp
NR_134870.1:n.340C>T (TRIM31)
NR_134871.1:n.340C>T (TRIM31)
NM_007028.5:c.214C>T (TRIM31) MANE Select NP_008959.3:p.Arg72Trp
NR_134870.2:n.324C>T (TRIM31)
NR_134871.2:n.324C>T (TRIM31)
Search 100 bp 5'
Search 100 bp 3'