Canonical Allele Identifier: CA265620735
Community Standard Title: NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92015762G>A , CM000676.2:g.92015762G>A GRCh38
NC_000014.8:g.92482106G>A , CM000676.1:g.92482106G>A GRCh37
NC_000014.7:g.91551859G>A NCBI36
NG_016970.1:g.29298C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.757C>T MANE Select NP_004230.2:p.Arg253Ter
ENST00000267622.8:c.757C>T MANE Select ENSP00000267622.4:p.Arg253Ter
NM_001321851.1:c.754C>T NP_001308780.1:p.Arg252Ter
NM_004239.3:c.757C>T NP_004230.2:p.Arg253Ter
XM_005268215.2:c.757C>T XP_005268272.1:p.Arg253Ter
XM_006720321.2:c.754C>T XP_006720384.1:p.Arg252Ter
XM_011537361.1:c.757C>T XP_011535663.1:p.Arg253Ter
XM_017021787.2:c.52C>T XP_016877276.1:p.Arg18Ter
XM_017021788.2:c.-442C>T XP_016877277.1:n.-442C>T
XR_001750598.2:n.1206C>T
XR_943560.1:n.1212C>T
XR_943560.2:n.1206C>T