Canonical Allele Identifier: CA245239
Gene: TRIP11 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.92021762C>A
GRCh37 chr14:g.92488106C>A
Revel Score:
ENST00000267622 (MANE Select) 0.126
gnomAD v2:
14:92488106 C / A
gnomAD v3:
14:92021762 C / A
gnomAD v4:
chr14-92021762-C-A
Joint Max Group AF 0.00192032 (NFE)
Genomes Max Group AF 0.0023182 (AMR)
Exomes Max Group AF 0.00191647 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92021762C>A , CM000676.2:g.92021762C>A GRCh38
NC_000014.8:g.92488106C>A , CM000676.1:g.92488106C>A GRCh37
NC_000014.7:g.91557859C>A NCBI36
NG_016970.1:g.23298G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.382G>T MANE Select ENSP00000267622.4:p.Ala128Ser
ENST00000555516.6:c.-102G>T ENSP00000451944.1:n.-102G>T
NM_004239.3:c.382G>T NP_004230.2:p.Ala128Ser
XM_005268215.2:c.382G>T XP_005268272.1:p.Ala128Ser
XM_006720321.2:c.379G>T XP_006720384.1:p.Ala127Ser
XM_011537361.1:c.382G>T XP_011535663.1:p.Ala128Ser
XR_943560.1:n.837G>T
NM_001321851.1:c.379G>T NP_001308780.1:p.Ala127Ser
NM_004239.4:c.382G>T MANE Select NP_004230.2:p.Ala128Ser
XM_017021787.2:c.-365G>T XP_016877276.1:n.-365G>T
XM_017021788.2:c.-817G>T XP_016877277.1:n.-817G>T
XR_001750598.2:n.831G>T
XR_943560.2:n.831G>T
Search 100 bp 5'
Search 100 bp 3'