Canonical Allele Identifier: CA7313371
Community Standard Title: NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91999378C>T , CM000676.2:g.91999378C>T GRCh38
NC_000014.8:g.92465722C>T , CM000676.1:g.92465722C>T GRCh37
NC_000014.7:g.91535475C>T NCBI36
NG_016970.1:g.45682G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.4754G>A MANE Select NP_004230.2:p.Arg1585His
ENST00000267622.8:c.4754G>A MANE Select ENSP00000267622.4:p.Arg1585His
NM_001321851.1:c.4751G>A NP_001308780.1:p.Arg1584His
NM_004239.3:c.4754G>A NP_004230.2:p.Arg1585His
ENST00000554357.5:c.3900G>A
ENST00000557017.1:c.2G>A ENSP00000451607.1:p.Arg1His
XM_005268214.2:c.3428G>A XP_005268271.1:p.Arg1143His
XM_005268215.2:c.1724G>A XP_005268272.1:p.Arg575His
XM_006720321.2:c.4751G>A XP_006720384.1:p.Arg1584His
XM_011537361.1:c.4754G>A XP_011535663.1:p.Arg1585His
XM_017021787.2:c.4049G>A XP_016877276.1:p.Arg1350His
XM_017021788.2:c.3428G>A XP_016877277.1:p.Arg1143His
XR_001750598.2:n.5203G>A
XR_943560.1:n.5209G>A
XR_943560.2:n.5203G>A