Canonical Allele Identifier: CA7313405
Gene: TRIP11 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.92000046A>G
GRCh37 chr14:g.92466390A>G
Revel Score:
ENST00000554357 0.263
gnomAD v2:
14:92466390 A / G
gnomAD v3:
14:92000046 A / G
gnomAD v4:
chr14-92000046-A-G
Joint Max Group AF 0.00079302 (SAS)
Genomes Max Group AF 0.0006047 (AMR)
Exomes Max Group AF 0.00082694 (SAS)
ClinVar Allele:
267366
ClinVar RCV:
RCV000299952
RCV001080898
ClinVar Variation:
283129
dbSNP:
72705400
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92000046A>G , CM000676.2:g.92000046A>G GRCh38
NC_000014.8:g.92466390A>G , CM000676.1:g.92466390A>G GRCh37
NC_000014.7:g.91536143A>G NCBI36
NG_016970.1:g.45014T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.4620T>C MANE Select ENSP00000267622.4:p.Val1540=
ENST00000554357.5:c.3766T>C
NM_004239.3:c.4620T>C NP_004230.2:p.Val1540=
XM_005268214.2:c.3294T>C XP_005268271.1:p.Val1098=
XM_005268215.2:c.1590T>C XP_005268272.1:p.Val530=
XM_006720321.2:c.4617T>C XP_006720384.1:p.Val1539=
XM_011537361.1:c.4620T>C XP_011535663.1:p.Val1540=
XR_943560.1:n.5075T>C
NM_001321851.1:c.4617T>C NP_001308780.1:p.Val1539=
NM_004239.4:c.4620T>C MANE Select NP_004230.2:p.Val1540=
XM_017021787.2:c.3915T>C XP_016877276.1:p.Val1305=
XM_017021788.2:c.3294T>C XP_016877277.1:p.Val1098=
XR_001750598.2:n.5069T>C
XR_943560.2:n.5069T>C
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