Canonical Allele Identifier: CA7313172
Community Standard Title: NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91975237G>A , CM000676.2:g.91975237G>A GRCh38
NC_000014.8:g.92441581G>A , CM000676.1:g.92441581G>A GRCh37
NC_000014.7:g.91511334G>A NCBI36
NG_016970.1:g.69823C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.5392C>T MANE Select NP_004230.2:p.Gln1798Ter
ENST00000267622.8:c.5392C>T MANE Select ENSP00000267622.4:p.Gln1798Ter
NM_001321851.1:c.5389C>T NP_001308780.1:p.Gln1797Ter
NM_004239.3:c.5392C>T NP_004230.2:p.Gln1798Ter
ENST00000554357.5:c.4538C>T
ENST00000557017.1:c.763C>T ENSP00000451607.1:n.763C>T
XM_005268214.2:c.4066C>T XP_005268271.1:p.Gln1356Ter
XM_005268215.2:c.2362C>T XP_005268272.1:p.Gln788Ter
XM_006720321.2:c.5389C>T XP_006720384.1:p.Gln1797Ter
XM_017021787.2:c.4687C>T XP_016877276.1:p.Gln1563Ter
XM_017021788.2:c.4066C>T XP_016877277.1:p.Gln1356Ter
XR_943560.1:n.5970C>T
XR_943560.2:n.5964C>T