Canonical Allele Identifier: CA390653338
Community Standard Title: NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92004708G>A , CM000676.2:g.92004708G>A GRCh38
NC_000014.8:g.92471052G>A , CM000676.1:g.92471052G>A GRCh37
NC_000014.7:g.91540805G>A NCBI36
NG_016970.1:g.40352C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.3268C>T MANE Select NP_004230.2:p.Gln1090Ter
ENST00000267622.8:c.3268C>T MANE Select ENSP00000267622.4:p.Gln1090Ter
NM_001321851.1:c.3265C>T NP_001308780.1:p.Gln1089Ter
NM_004239.3:c.3268C>T NP_004230.2:p.Gln1090Ter
ENST00000554357.5:c.2414C>T
XM_005268214.2:c.1942C>T XP_005268271.1:p.Gln648Ter
XM_005268215.2:c.1527+2932C>T XP_005268272.1:n.1527+2932C>T
XM_006720321.2:c.3265C>T XP_006720384.1:p.Gln1089Ter
XM_011537361.1:c.3268C>T XP_011535663.1:p.Gln1090Ter
XM_017021787.2:c.2563C>T XP_016877276.1:p.Gln855Ter
XM_017021788.2:c.1942C>T XP_016877277.1:p.Gln648Ter
XR_001750598.2:n.3717C>T
XR_943560.1:n.3723C>T
XR_943560.2:n.3717C>T