Canonical Allele Identifier: CA265603853
Gene: TRIP11 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91999420C>T , CM000676.2:g.91999420C>T GRCh38
NC_000014.8:g.92465764C>T , CM000676.1:g.92465764C>T GRCh37
NC_000014.7:g.91535517C>T NCBI36
NG_016970.1:g.45640G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.4712G>A MANE Select ENSP00000267622.4:p.Arg1571His
ENST00000554357.5:c.3858G>A
NM_004239.3:c.4712G>A NP_004230.2:p.Arg1571His
XM_005268214.2:c.3386G>A XP_005268271.1:p.Arg1129His
XM_005268215.2:c.1682G>A XP_005268272.1:p.Arg561His
XM_006720321.2:c.4709G>A XP_006720384.1:p.Arg1570His
XM_011537361.1:c.4712G>A XP_011535663.1:p.Arg1571His
XR_943560.1:n.5167G>A
NM_001321851.1:c.4709G>A NP_001308780.1:p.Arg1570His
NM_004239.4:c.4712G>A MANE Select NP_004230.2:p.Arg1571His
XM_017021787.2:c.4007G>A XP_016877276.1:p.Arg1336His
XM_017021788.2:c.3386G>A XP_016877277.1:p.Arg1129His
XR_001750598.2:n.5161G>A
XR_943560.2:n.5161G>A