Canonical Allele Identifier: CA265601090
Community Standard Title: NM_004239.4(TRIP11):c.4894C>T (p.His1632Tyr)
Gene: TRIP11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91995514G>A , CM000676.2:g.91995514G>A GRCh38
NC_000014.8:g.92461858G>A , CM000676.1:g.92461858G>A GRCh37
NC_000014.7:g.91531611G>A NCBI36
NG_016970.1:g.49546C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004239.4:c.4894C>T MANE Select NP_004230.2:p.His1632Tyr
ENST00000267622.8:c.4894C>T MANE Select ENSP00000267622.4:p.His1632Tyr
NM_001321851.1:c.4891C>T NP_001308780.1:p.His1631Tyr
NM_004239.3:c.4894C>T NP_004230.2:p.His1632Tyr
ENST00000554357.5:c.4040C>T
ENST00000557017.1:c.142C>T ENSP00000451607.1:p.His48Tyr
XM_005268214.2:c.3568C>T XP_005268271.1:p.His1190Tyr
XM_005268215.2:c.1864C>T XP_005268272.1:p.His622Tyr
XM_006720321.2:c.4891C>T XP_006720384.1:p.His1631Tyr
XM_011537361.1:c.4893-1602C>T XP_011535663.1:n.4893-1602C>T
XM_017021787.2:c.4189C>T XP_016877276.1:p.His1397Tyr
XM_017021788.2:c.3568C>T XP_016877277.1:p.His1190Tyr
XR_001750598.2:n.5342-1602C>T
XR_943560.1:n.5349C>T
XR_943560.2:n.5343C>T