Canonical Allele Identifier: CA7313455
Gene: TRIP11 HGNC NCBI
COSMIC:
COSM6235393 (not active)
MyVariant.info:
GRCh38 chr14:g.92003533C>T
GRCh37 chr14:g.92469877C>T
Revel Score:
ENST00000554357 0.024
gnomAD v2:
14:92469877 C / T
gnomAD v3:
14:92003533 C / T
gnomAD v4:
chr14-92003533-C-T
Joint Max Group AF 0.00012716 (SAS)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00012471 (SAS)
ClinVar Allele:
339870
ClinVar RCV:
RCV000288620
ClinVar Variation:
314941
dbSNP:
372272441
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92003533C>T , CM000676.2:g.92003533C>T GRCh38
NC_000014.8:g.92469877C>T , CM000676.1:g.92469877C>T GRCh37
NC_000014.7:g.91539630C>T NCBI36
NG_016970.1:g.41527G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.4443G>A MANE Select ENSP00000267622.4:p.Ala1481=
ENST00000554357.5:c.3589G>A
NM_004239.3:c.4443G>A NP_004230.2:p.Ala1481=
XM_005268214.2:c.3117G>A XP_005268271.1:p.Ala1039=
XM_005268215.2:c.1528-3425G>A XP_005268272.1:n.1528-3425G>A
XM_006720321.2:c.4440G>A XP_006720384.1:p.Ala1480=
XM_011537361.1:c.4443G>A XP_011535663.1:p.Ala1481=
XR_943560.1:n.4898G>A
NM_001321851.1:c.4440G>A NP_001308780.1:p.Ala1480=
NM_004239.4:c.4443G>A MANE Select NP_004230.2:p.Ala1481=
XM_017021787.2:c.3738G>A XP_016877276.1:p.Ala1246=
XM_017021788.2:c.3117G>A XP_016877277.1:p.Ala1039=
XR_001750598.2:n.4892G>A
XR_943560.2:n.4892G>A
Search 100 bp 5'
Search 100 bp 3'