Canonical Allele Identifier: CA117560
Gene: TRIP11 HGNC NCBI

Linked Data

ClinVar Variation Id: 5508
dbSNP Id: rs267607138

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92015729G>A , CM000676.2:g.92015729G>A GRCh38
NC_000014.8:g.92482073G>A , CM000676.1:g.92482073G>A GRCh37
NC_000014.7:g.91551826G>A NCBI36
NG_016970.1:g.29331C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267622.8:c.790C>T MANE Select ENSP00000267622.4:p.Arg264Ter
ENST00000554357.5:c.23C>T
NM_004239.3:c.790C>T NP_004230.2:p.Arg264Ter
XM_005268215.2:c.790C>T XP_005268272.1:p.Arg264Ter
XM_006720321.2:c.787C>T XP_006720384.1:p.Arg263Ter
XM_011537361.1:c.790C>T XP_011535663.1:p.Arg264Ter
XR_943560.1:n.1245C>T
NM_001321851.1:c.787C>T NP_001308780.1:p.Arg263Ter
NM_004239.4:c.790C>T MANE Select NP_004230.2:p.Arg264Ter
XM_017021787.2:c.85C>T XP_016877276.1:p.Arg29Ter
XM_017021788.2:c.-409C>T XP_016877277.1:n.-409C>T
XR_001750598.2:n.1239C>T
XR_943560.2:n.1239C>T