Canonical Allele Identifier: CA7313519
Community Standard Title: NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.92003848C>A , CM000676.2:g.92003848C>A GRCh38
NC_000014.8:g.92470192C>A , CM000676.1:g.92470192C>A GRCh37
NC_000014.7:g.91539945C>A NCBI36
NG_016970.1:g.41212G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.4128G>T MANE Select NP_004230.2:p.Ser1376=
ENST00000267622.8:c.4128G>T MANE Select ENSP00000267622.4:p.Ser1376=
NM_001321851.1:c.4125G>T NP_001308780.1:p.Ser1375=
NM_004239.3:c.4128G>T NP_004230.2:p.Ser1376=
ENST00000554357.5:c.3274G>T
XM_005268214.2:c.2802G>T XP_005268271.1:p.Ser934=
XM_005268215.2:c.1528-3740G>T XP_005268272.1:n.1528-3740G>T
XM_006720321.2:c.4125G>T XP_006720384.1:p.Ser1375=
XM_011537361.1:c.4128G>T XP_011535663.1:p.Ser1376=
XM_017021787.2:c.3423G>T XP_016877276.1:p.Ser1141=
XM_017021788.2:c.2802G>T XP_016877277.1:p.Ser934=
XR_001750598.2:n.4577G>T
XR_943560.1:n.4583G>T
XR_943560.2:n.4577G>T