Canonical Allele Identifier: CA239559
Gene: TRIP11 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.92003913A>T
GRCh37 chr14:g.92470257A>T
Revel Score:
ENST00000554357 0.119
ENST00000267622 (MANE Select) 0.119
ENST00000542257 0.119
gnomAD v2:
14:92470257 A / T
gnomAD v3:
14:92003913 A / T
gnomAD v4:
chr14-92003913-A-T
Joint Max Group AF 0.00279412 (AFR)
Genomes Max Group AF 0.00251782 (AFR)
Exomes Max Group AF 0.00284281 (AFR)
ClinVar Allele:
191037
ClinVar RCV:
RCV000174095
RCV000340266
ClinVar Variation:
193874
dbSNP:
138661581
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92003913A>T , CM000676.2:g.92003913A>T GRCh38
NC_000014.8:g.92470257A>T , CM000676.1:g.92470257A>T GRCh37
NC_000014.7:g.91540010A>T NCBI36
NG_016970.1:g.41147T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.4063T>A MANE Select ENSP00000267622.4:p.Ser1355Thr
ENST00000554357.5:c.3209T>A
NM_004239.3:c.4063T>A NP_004230.2:p.Ser1355Thr
XM_005268214.2:c.2737T>A XP_005268271.1:p.Ser913Thr
XM_005268215.2:c.1527+3727T>A XP_005268272.1:n.1527+3727T>A
XM_006720321.2:c.4060T>A XP_006720384.1:p.Ser1354Thr
XM_011537361.1:c.4063T>A XP_011535663.1:p.Ser1355Thr
XR_943560.1:n.4518T>A
NM_001321851.1:c.4060T>A NP_001308780.1:p.Ser1354Thr
NM_004239.4:c.4063T>A MANE Select NP_004230.2:p.Ser1355Thr
XM_017021787.2:c.3358T>A XP_016877276.1:p.Ser1120Thr
XM_017021788.2:c.2737T>A XP_016877277.1:p.Ser913Thr
XR_001750598.2:n.4512T>A
XR_943560.2:n.4512T>A
Search 100 bp 5'
Search 100 bp 3'