Canonical Allele Identifier: CA390652357
Community Standard Title: NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92004498G>A , CM000676.2:g.92004498G>A GRCh38
NC_000014.8:g.92470842G>A , CM000676.1:g.92470842G>A GRCh37
NC_000014.7:g.91540595G>A NCBI36
NG_016970.1:g.40562C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.3478C>T MANE Select NP_004230.2:p.Gln1160Ter
ENST00000267622.8:c.3478C>T MANE Select ENSP00000267622.4:p.Gln1160Ter
NM_001321851.1:c.3475C>T NP_001308780.1:p.Gln1159Ter
NM_004239.3:c.3478C>T NP_004230.2:p.Gln1160Ter
ENST00000554357.5:c.2624C>T
XM_005268214.2:c.2152C>T XP_005268271.1:p.Gln718Ter
XM_005268215.2:c.1527+3142C>T XP_005268272.1:n.1527+3142C>T
XM_006720321.2:c.3475C>T XP_006720384.1:p.Gln1159Ter
XM_011537361.1:c.3478C>T XP_011535663.1:p.Gln1160Ter
XM_017021787.2:c.2773C>T XP_016877276.1:p.Gln925Ter
XM_017021788.2:c.2152C>T XP_016877277.1:p.Gln718Ter
XR_001750598.2:n.3927C>T
XR_943560.1:n.3933C>T
XR_943560.2:n.3927C>T